lsdb_name lsdb_url lsdb_hgnc_id lsdb_app_sym NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox http://bioinf.uta.fi/NCF2base/ 7661 NCF2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZRSR2 23019 ZRSR2 PTPRCbase: Mutation registry for CD45 deficiency http://bioinf.uta.fi/PTPRCbase/ 9666 PTPRC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AP1S2 560 AP1S2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=NBN 7652 NBN Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SYP 11506 SYP ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11180 SOD2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4932 HLA-B Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TPM2 12011 TPM2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL13RA1 5974 IL13RA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UTX 12637 KDM6A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGT1 28880 MAGT1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4963 HLA-F Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2634 CYP2J2 Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPS24 10411 RPS24 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3588 FANCG Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCG 3588 FANCG Nephrogenic diabetes Insipidus http://www.medicine.mcgill.ca/nephros/ 634 AQP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf23 27413 CXorf23 Mutations of the Usher Syndrome Type 3 Gene http://www.retina-international.org/files/sci-news/ush3mut.htm 12605 CLRN1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB5 23795 MAGEB5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TFE3 11752 TFE3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ESX1 14865 ESX1 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/EMD 3331 EMD UMD Locus Specific Databases http://www.umd.be/ 3331 EMD Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=EMD 3331 EMD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EMD 3331 EMD Leiden Muscular Dystrophy Pages http://www.LOVD.nl/SGCA 10805 SGCA Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SGCA 10805 SGCA TCIRG1base: Mutation registry for autosomal recessive osteopetrosis http://bioinf.uta.fi/TCIRG1base/ 11647 TCIRG1 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2073 TPP1 JAG1 database at LOVD-China http://genomed.org/LOVD/ALGS/home.php?select_db=JAG1 6188 JAG1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4946 HLA-DQB3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LHFPL1 6587 LHFPL1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 23482 HLA-V TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base) http://bioinf.uta.fi/TMC6base/ 18021 TMC6 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6331 KIR2DL3 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 19358 ALG12 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX1 8850 PEX1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 4012 FUT1 Arylamine N-Acetyltransferase http://www.louisville.edu/medschool/pharmacology/NAT.html 7646 NAT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CCNB3 18709 CCNB3 Pterin-4a-carbionolaminedehydratase deficiency-BIOMED database http://www.bh4.org/BH4DatabasesBiopku.asp 8646 PCBD1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ASMTL-AS1 25811 ASMTL-AS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CD99 7082 CD99 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TIMP1 11820 TIMP1 Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2) http://www.retina-international.org/files/sci-news/bbs1mut.htm 966 BBS1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 4018 FUT7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ACSL4 3571 ACSL4 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ASS1 758 ASS1 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=ASS1 758 ASS1 Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.insight-group.org/ 7127 MLH1 Mismatch Repair Genes Variant Database http://www.med.mun.ca/mmrvariants/ 7127 MLH1 Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=MLH1 7127 MLH1 MLH1 database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH1 7127 MLH1 MASP2base: Mutation registry for MASP-2 deficiency http://bioinf.uta.fi/MASP2base/ 6902 MASP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MBTPS2 15455 MBTPS2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF645 26371 ZNF645 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/growth/home.php?select_db=IGF1 5464 IGF1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPL39 10350 RPL39 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=OFD1 2567 OFD1 SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) http://bioinf.uta.fi/SP110base/ 5401 SP110 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZCCHC13 31749 ZCCHC13 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SRPX 11309 SRPX Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF41 13107 ZNF41 Mutations of the RP2 Gene http://www.retina-international.org/files/sci-news/rp2mut.htm 10274 RP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RP2 10274 RP2 Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene http://www.retina-international.org/files/sci-news/impdhmut.htm 6052 IMPDH1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 14540 WNK1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TEX11 11733 TEX11 Congenital Disorder of Glycosylation pages http://www.euroglycanet.org/ 7045 MGAT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZBTB33 16682 ZBTB33 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=BCL11A 13221 BCL11A The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=SMAD3 6769 SMAD3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BMP15 1068 BMP15 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SPANXN4 33177 SPANXN4 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=NAGS 17996 NAGS Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene http://www.retina-international.org/files/sci-news/rommut.htm 10254 ROM1 Mutation Database of Inherited Peripheral Neuropathies http://www.molgen.ua.ac.be/CMTMutations 3239 EGR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TLR7 15631 TLR7 Mutations of the HPS3 Gene http://www.retina-international.org/files/sci-news/hps3mut.htm 15597 HPS3 Albinism Database http://albinismdb.med.umn.edu/ 15597 HPS3 TAP1base: Mutation registry for TAP1 deficiency http://bioinf.uta.fi/TAP1base/ 43 TAP1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 43 TAP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM122C 25202 FAM122C Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PABPC5 13629 PABPC5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NRK 25391 NRK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UBA1 12469 UBA1 Mutations of the Precursor mRNA Processing Protein 8 http://www.retina-international.org/files/sci-news/prpc8mut.htm 17340 PRPF8 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=FLT1 3763 FLT1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SHOX 10853 SHOX University of Heidelberg http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=SHOX 10853 SHOX Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=POF1B 13711 POF1B Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPS19 10402 RPS19 RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome http://bioinf.uta.fi/RAC2base/ 9802 RAC2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARMCX6 26094 ARMCX6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PIR 30048 PIR dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX13 8855 PEX13 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EFHC2 26233 EFHC2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PCTK1 8749 CDK16 X-linked Adrenoleukodystrophy Database http://www.x-ald.nl 61 ABCD1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ABCD1 61 ABCD1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MED12 11957 MED12 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 2169 CNTF Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=XPNPEP2 12823 XPNPEP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZBED1 447 ZBED1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=VSIG1 28675 VSIG1 Autosomal Dominant Polycystic Kidney Disease (ADPKD) http://grenada.lumc.nl/LOVD2/PKD/home.php?select_db=PKD2 9009 PKD2 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 8515 OTOF IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency http://bioinf.uta.fi/IL12Bbase/ 5970 IL12B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DDX53 20083 DDX53 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYBA1 2394 CRYBA1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 4704 GYPC Human Cytochrome P450 (CYP)Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2597 CYP1B1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FTHL17 3987 FTHL17 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BCOR 20893 BCOR Congenital Disorder of Glycosylation pages http://www.euroglycanet.org/ 23157 ALG6 Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database http://www.sesep.uvsq.fr/Database.html 438 ALPL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DACH2 16814 DACH2 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 10008 RHCE Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CYSLTR1 17451 CYSLTR1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 7225 MPZ Hereditary Fructose Intolerance/Aldolase http://www.bu.edu/aldolase/ 417 ALDOB ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=DSC2 3036 DSC2 Mutations of the P-Cadherin Gene http://www.retina-international.org/files/sci-news/cdh3mut.htm 1762 CDH3 RAG1base: Mutation registry for autosomal recessive RAG1 deficiency http://bioinf.uta.fi/RAG1base/ 9831 RAG1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PDHA1 8806 PDHA1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 4137 GAN Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC25A43 30557 SLC25A43 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PPP1R3F 14944 PPP1R3F Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 5246 HSPB1 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2621 CYP2C19 Mutations of the EGF-containing fibulin-like extracellular matrix protein 1 http://www.retina-international.org/files/sci-news/efempmut.htm 3218 EFEMP1 Mutations of the RPE-Retinal G-Protein-Coupled Receptor http://www.retina-international.org/files/sci-news/rgrmut.htm 9990 RGR IGHMbase: Mutation registry for µ heavy-chain deficiency http://bioinf.uta.fi/IGHMbase/ 5541 IGHM FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 7583 MYL2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EDA 3157 EDA TSC2 Mutation Database http://www.LOVD.nl/TSC2 12363 TSC2 Tuberous sclerosis database http://chromium.liacs.nl/LOVD2/TSC/home.php?select_db=TSC2 12363 TSC2 SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP) http://bioinf.uta.fi/SH2D1Abase/ 10820 SH2D1A LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=SLC25A15 10985 SLC25A15 Alzheimer Disease & Frontotemporal Dementia Mutation Database http://www.molgen.ua.ac.be/ADMutations/ 9509 PSEN2 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/COL6A3 2213 COL6A3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=COL6A3 2213 COL6A3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HTR2C 5295 HTR2C C1Sbase: Mutation registry for C1s deficiency http://bioinf.uta.fi/C1Sbase/index2.html 1247 C1S LIG4base: Mutation registry for LIG4 syndrome http://bioinf.uta.fi/LIG4base/ 6601 LIG4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAAH2 26440 FAAH2 Mutations of HRG4 http://www.retina-international.org/files/sci-news/hrg4mut.htm 12565 UNC119 IMGT; the international ImMunoGeneTics information system ® http://www.imgt.org 5855 IGLC1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=OPHN1 8148 OPHN1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=EDNRB 3180 EDNRB LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=D2HGDH 28358 D2HGDH LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia http://bioinf.uta.fi/LRRC8Abase/ 19027 LRRC8A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PHKA1 8925 PHKA1 HbVar: A Database of Human Hemoglobin Variants and Thalassemias http://globin.cse.psu.edu/globin/hbvar/menu.html 4827 HBB The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBB 4827 HBB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NSBP1 8013 HMGN5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DDX3X 2745 DDX3X Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RBM41 25617 RBM41 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC25A5 10991 SLC25A5 Congenital Disorder of Glycosylation pages http://www.euroglycanet.org/ 7216 MPI The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=CNTNAP2 13830 CNTNAP2 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 493 ANK2 ANK2 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=ANK2 493 ANK2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=SLC25A13 10983 SLC25A13 CTSCbase: Mutation registry for Papillon-Lefevre syndrome http://bioinf.uta.fi/CTSCbase/ 2528 CTSC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BRWD3 17342 BRWD3 CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency http://bioinf.uta.fi/CD247base/ 1677 CD247 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 11877 TMPRSS3 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYBB3 2400 CRYBB3 Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.insight-group.org/ 9122 PMS2 Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=PMS2 9122 PMS2 PMS2 database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS2 9122 PMS2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR50 4506 GPR50 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 1390 CACNA1C CACNA1C database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=CACNA1C 1390 CACNA1C Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 10914 SLC12A6 STAT1base: Mutation registry for STAT1 deficiency http://bioinf.uta.fi/STAT1base/ 11362 STAT1 Coffin-Lowry Syndrome http://alsace.u-strasbg.fr/chimbio/diag/coffin/index.html 10432 RPS6KA3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPS6KA3 10432 RPS6KA3 Antithrombin III mutation database http://www1.imperial.ac.uk/departmentofmedicine/divisions/experimentalmedicine/haematology/coag/antithrombin/ 775 SERPINC1 Mutations of the Human Crumbs Homologue 1 http://www.retina-international.org/files/sci-news/crb1mut.htm 2343 CRB1 Factor VII Mutation Database; & Factor VIII: The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS) http://europium.csc.mrc.ac.uk/ 3544 F7 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 9461 PRPH LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ASL 746 ASL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEC2 13574 MAGEC2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF280C 25955 ZNF280C ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 9705 PVR X-Linked Severe Combined Immuno deficiency SCID http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=IL2RG 6010 IL2RG Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL2RG 6010 IL2RG RAG2base: Mutation registry for autosomal recessive RAG2 deficiency http://bioinf.uta.fi/RAG2base/ 9832 RAG2 The Homo sapients FMO3 Allelic Variant Database http://human-fmo3.biochem.ucl.ac.uk/Human_FMO3/ 3771 FMO3 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 633 AQP1 FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 7551 MYBPC3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CLCN5 2023 CLCN5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TBC1D8B 24715 TBC1D8B Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 5347 ICAM4 Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene http://www.retina-international.org/files/sci-news/timpmut.htm 11822 TIMP3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=REPS2 9963 REPS2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/growth/home.php?select_db=IGFALS 5468 IGFALS ELA2base: Mutation registry for Cyclic and congenital neutropenia http://bioinf.uta.fi/ELA2base/ 3309 ELANE Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=APOO 28727 APOO Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2595 CYP1A1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CCDC22 28909 CCDC22 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4953 HLA-DRB5 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6336 KIR2DS4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CSAG4 20923 CSAG4 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 7634 NAIP C1QBbase: Mutation registry for C1qB deficiency http://bioinf.uta.fi/C1QBbase/ 1242 C1QB SNTA1 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=SNTA1 11167 SNTA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TMEM187 13705 TMEM187 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC7A3 11061 SLC7A3 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 15654 CYP2S1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZCCHC5 22997 ZCCHC5 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 12680 VEGFA ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=TP63 15979 TP63 IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency http://bioinf.uta.fi/IGLL1base/ 5870 IGLL1 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/growth/home.php?select_db=IGF2 5466 IGF2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4938 HLA-DPA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC16A2 10923 SLC16A2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CDKL5 11411 CDKL5 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 16636 KIF1B Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 9217 POU3F4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=POU3F4 9217 POU3F4 TCA Cycle Gene Mutation Database http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=FH 3700 FH KDM5C database at LOVD http://www.LOVD.nl/KDM5C 11114 KDM5C Mutations of the Phosphodiesterase type 6 http://www.retina-international.org/files/sci-news/pdemut.htm 8785 PDE6A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UCHL5IP 32979 HAUS7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARAF 646 ARAF LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=ASPA 756 ASPA Mutations of the McKusick-Kaufman Gene http://www.retina-international.org/files/sci-news/mkksmut.htm 7108 MKKS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TSPYL2 24358 TSPYL2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SYAP1 16273 SYAP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FGD1 3663 FGD1 C5base: Mutation registry for C5 deficiency http://bioinf.uta.fi/C5base/index2.html 1331 C5 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX10 8851 PEX10 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PNMA5 18743 PNMA5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HTATSF1 5276 HTATSF1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 9206 PON3 Mutations of the Cone Rod Homeobox Gene http://www.retina-international.org/files/sci-news/crxmut.htm 2383 CRX Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EDA2R 17756 EDA2R LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/growth/home.php?select_db=GHR 4263 GHR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NXF3 8073 NXF3 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4955 HLA-DRB7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA5 6803 MAGEA5 RettBASE http://mecp2.chw.edu.au/ 6990 MECP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MECP2 6990 MECP2 HbVar: A Database of Human Hemoglobin Variants and Thalassemias http://globin.cse.psu.edu/globin/hbvar/menu.html 4829 HBD The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBD 4829 HBD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGED1 6813 MAGED1 Albinism Database http://albinismdb.med.umn.edu/ 566 AP3B1 AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2 http://bioinf.uta.fi/AP3B1base/ 566 AP3B1 Mutations of the Adaptin b3a Gene http://www.retina-international.org/files/sci-news/adtb3mut.htm 566 AP3B1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 5542 IGHMBP2 Hereditary Hearing Loss Homepage http://webh01.ua.ac.be/hhh/ 4274 GJA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SSX5 11339 SSX5 Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1 http://www.retina-international.org/files/sci-news/aipl1mut.htm 359 AIPL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRKX 9441 PRKX SMN1 - Spinal Muscular Atrophy (SMA) http://www.LOVD.nl/SMN1 11117 SMN1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SMN1 11117 SMN1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11117 SMN1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 108 ACHE Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2608 CYP2A13 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 17142 OPTN IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4940 HLA-DPB1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARSD 717 ARSD A Database For Human Fibrinogen Variants http://www.geht.org/databaseang/fibrinogen/ 3694 FGG Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 20580 CYP2R1 Gene Connection for the Heart; Naxos disease database http://www.fsm.it/cardmoc/ 6207 JUP ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=JUP 6207 JUP Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2623 CYP2C9 IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency http://bioinf.uta.fi/IL2RAbase/ 6008 IL2RA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM120C 16949 FAM120C Hereditary Hearing Loss Homepage http://webh01.ua.ac.be/hhh/ 13733 CDH23 Mutations of the Cadherin-related Protein 23 Gene http://www.retina-international.org/files/sci-news/cdh23mut.htm 13733 CDH23 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ABCB7 48 ABCB7 AIREbase: Mutation registry for APECED http://bioinf.uta.fi/AIREbase/ 360 AIRE Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PASD1 20686 PASD1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 9118 PMP22 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ARG1 663 ARG1 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3585 FANCD2 Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCD2 3585 FANCD2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PIGA 8957 PIGA Mutations of the Photoreceptor cell-specific Nuclear Receptor http://www.retina-international.org/files/sci-news/nr2e3mut.htm 7974 NR2E3 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=NR2E3 7974 NR2E3 Parkinson's disease Mutation Database http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=PARK2 8607 PARK2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=GLRA1 4326 GLRA1 Mutations of the Bardet-Biedl Syndrome Type 4 Gene http://www.retina-international.org/files/sci-news/bbs4mut.htm 969 BBS4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZMAT1 29377 ZMAT1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TNNT3 11950 TNNT3 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/LAMA2 6482 LAMA2 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=LAMA2 6482 LAMA2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GTPBP6 30189 GTPBP6 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=NOS1 7872 NOS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NKAP 29873 NKAP University of Heidelberg http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3D 24004 HTR3D Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPKOW 30677 GPKOW LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=GNAS 4392 GNAS BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 877 ALDH7A1 Glucocorticoid Receptor Resource database http://nrr.georgetown.edu/GRR/mutation/mutation.html 7978 NR3C1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CHRDL1 29861 CHRDL1 Albinism Database http://albinismdb.med.umn.edu/ 16472 SLC45A2 Mutations of the Membrane-associated Transport Protein Gene (MATP) http://www.retina-international.org/files/sci-news/matpmut.htm 16472 SLC45A2 MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3) http://bioinf.uta.fi/MLPHbase/ 29643 MLPH TCOF1 mutation database http://genoma.ib.usp.br/TCOF1_database/index.php 11654 TCOF1 Mutations of the Neuroretina-linked Leucine Zipper Gene http://www.retina-international.org/files/sci-news/nrlmut.htm 8002 NRL University of Heidelberg http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3A 5297 HTR3A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF75D 13145 ZNF75D LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=HGSNAT 26527 HGSNAT Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LRCH2 29292 LRCH2 MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD) http://bioinf.uta.fi/MRE11Abase/ 7230 MRE11A Protein S Deficiency: A database of Mutations http://www.med.unc.edu/isth/ 9456 PROS1 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations http://fmf.igh.cnrs.fr/infevers/ 7530 MVK Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2644 CYP4B1 Mutations of the Cyclic Nucleotide-gated Cation Channel http://www.retina-international.org/files/sci-news/cnga1mut.htm 2148 CNGA1 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6335 KIR2DS3 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 12679 VDR Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 11027 SLC4A1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=STARD8 19161 STARD8 UMD Locus Specific Databases http://www.umd.be/ 12687 VHL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PTCHD1 26392 PTCHD1 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 9603 PTGIS IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 7091 MICB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CNKSR2 19701 CNKSR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CCDC120 28910 CCDC120 CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis http://bioinf.uta.fi/CA2base/ 1373 CA2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLP1 9086 PLP1 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=CACNA1S 1397 CACNA1S IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4944 HLA-DQB1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ASB9 17184 ASB9 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX16 8857 PEX16 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 16345 KIR2DL5A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AMELX 461 AMELX Adenomatous polyposis coli mutation database http://p53.free.fr/ 583 APC UMD Locus Specific Databases http://www.umd.be/ 583 APC Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=APC 583 APC APC database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=APC 583 APC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR112 18992 GPR112 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3587 FANCF Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCF 3587 FANCF Mutations of the Prominin (mouse)-like 1 gene (PROML1) http://www.retina-international.org/files/sci-news/promlmut.htm 9454 PROM1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=PROM1 9454 PROM1 C9base: Mutation registry for C9 deficiency http://bioinf.uta.fi/C9base/index2.html 1358 C9 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KLHL13 22931 KLHL13 LOVD - Center for Medical Genetics, Ghent, Belgium http://medgen.ugent.be/LOVD2/home.php?select_db=COL2A1 2200 COL2A1 Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database http://arup.utah.edu/database/GALT/GALT_welcome.php 4135 GALT Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF275 13069 ZNF275 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/DTNA 3057 DTNA Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DTNA 3057 DTNA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRRG1 9469 PRRG1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11141 SNCG Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZMYM3 13054 ZMYM3 Von Willebrand Factor Database http://vwf.group.shef.ac.uk/ 12726 VWF Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1) http://www.retina-international.org/files/sci-news/bbs7mut.htm 18758 BBS7 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 2876 DIAPH1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MID2 7096 MID2 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 10009 RHD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SRPK3 11402 SRPK3 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 2135 SBF2 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3583 FANCB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FANCB 3583 FANCB Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCB 3583 FANCB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAB40A 18283 RAB40A RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency http://bioinf.uta.fi/RFX5base/ 9986 RFX5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR119 19060 GPR119 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SYTL4 15588 SYTL4 CD79Abase: Mutation registry for Igα deficiency http://bioinf.uta.fi/CD79Abase/ 1698 CD79A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC6A8 11055 SLC6A8 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=SLC6A8 11055 SLC6A8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR82 4533 GPR82 Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome http://www.ibiblio.org/dnam/mainpage.html 5157 HPRT1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4942 HLA-DQA1 Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.insight-group.org/ 7329 MSH6 Mismatch Repair Genes Variant Database http://www.med.mun.ca/mmrvariants/ 7329 MSH6 Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=MSH6 7329 MSH6 MSH6 database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH6 7329 MSH6 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYBB2 2398 CRYBB2 Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E) http://www.retina-international.org/files/sci-news/abcc6mut.htm 57 ABCC6 LOVD at NCBI http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6 57 ABCC6 Quinoid Dihydropteridinereductase deficiency- BIOMED database http://www.bh4.org/BH4DatabasesBiopku.asp 9752 QDPR BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 9752 QDPR Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2642 CYP4A11 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6333 KIR2DS1 CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency http://bioinf.uta.fi/CEBPEbase/ 1836 CEBPE ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 395 ALAD IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4936 HLA-DOA Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database http://www.hhtmutation.org/ 175 ACVRL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAP3K15 31689 MAP3K15 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3584 FANCC Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCC 3584 FANCC Autosomal Recessive Polycystic Kidney Disease http://www.humgen.rwth-aachen.de/ 9016 PKHD1 Cystathionine beta-synthase database http://cbs.lf1.cuni.cz/index.php 1550 CBS Monogenic Diabetes http://grenada.lumc.nl/LOVD2/diabetes/home.php?select_db=HNF1A 11621 HNF1A NOTCH3 - CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical http://www.LOVD.nl/NOTCH3 7883 NOTCH3 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=NOTCH3 7883 NOTCH3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZDHHC9 18475 ZDHHC9 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DES 2770 DES Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=OGT 8127 OGT Mutations of the Fascin Gene http://www.retina-international.org/files/sci-news/fscn2mut.htm 3960 FSCN2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HS6ST2 19133 HS6ST2 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DPM3 3007 DPM3 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations http://fmf.igh.cnrs.fr/infevers/ 11916 TNFRSF1A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PCDH11X 8656 PCDH11X Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf28 27336 CXorf28 CD3Gbase: Mutation registry for autosomal recessiveCD3gamma immunodeficiency http://bioinf.uta.fi/CD3Gbase/index2.html 1675 CD3G Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MPP1 7219 MPP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=WNK3 14543 WNK3 C3base: Mutation registry for C3 deficiency http://bioinf.uta.fi/C3base/index2.html 1318 C3 Mutations of the Cone Cyclic Nucleotide-gated Cation Channel http://www.retina-international.org/files/sci-news/cnga3mut.htm 2150 CNGA3 Alzheimer Disease & Frontotemporal Dementia Mutation Database http://www.molgen.ua.ac.be/FTDMutations/ 6893 MAPT ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 6893 MAPT Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATRX 886 ATRX The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=ATRX 886 ATRX RB1 @ Universitat Duisburg-Essen http://132.252.149.74/LOVD/ 9884 RB1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 1116 BSG Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PPEF1 9243 PPEF1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=EDN3 3178 EDN3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PHF8 20672 PHF8 LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=OTX2 8522 OTX2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPS6KA6 10435 RPS6KA6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TCEAL4 26121 TCEAL4 IFNGR2base: Mutation registry for IFNγ2-receptor deficiency http://bioinf.uta.fi/IFNGR2base/ 5440 IFNGR2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4965 HLA-H Long QT Syndrome Database http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm 6240 KCNE1 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 6240 KCNE1 KCNE1 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=KCNE1 6240 KCNE1 Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene http://www.retina-international.org/files/sci-news/elovlmut.htm 14415 ELOVL4 Mutations of Nyctalopin http://www.retina-international.org/files/sci-news/nyxmut.htm 8082 NYX Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=LARGE 6511 LARGE Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=RYR1 10483 RYR1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 14103 ARHGEF10 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAP7D3 25742 MAP7D3 Long QT Syndrome mutation database http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm 10593 SCN5A Gene Connection for the Heart http://www.fsm.it/cardmoc/ 10593 SCN5A SCN5A database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=SCN5A 10593 SCN5A Long QT Syndrome Database http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm 6242 KCNE2 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 6242 KCNE2 KCNE2 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=KCNE2 6242 KCNE2 Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database http://www.hhtmutation.org/ 3349 ENG LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=CLCN1 2019 CLCN1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 2665 CD55 CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase) http://bioinf.uta.fi/CD55base/ 2665 CD55 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GRPR 4609 GRPR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=APOOL 24009 APOOL LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/CDLS/home.php?select_db=SMC3 2468 SMC3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CSAG1 24294 CSAG1 GFI1base: Mutation registry for SCN and NI-CINA http://bioinf.uta.fi/GFI1base/ 4237 GFI1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MBNL3 20564 MBNL3 Nephrogenic diabetes Insipidus http://www.medicine.mcgill.ca/nephros/ 894 AVP nndi http://www.medgen.mcgill.ca/nndi/home.php?select_db=AVP 894 AVP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAP3K7IP3 30681 TAB3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=P2RY4 8542 P2RY4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAP7D2 25899 MAP7D2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HUWE1 30892 HUWE1 Human Polymorphisms of ALDH Genes http://www.aldh.org 412 ALDH9A1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF182 13001 ZNF182 CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase) http://bioinf.uta.fi/CYBBbase/ 2578 CYBB IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4950 HLA-DRB2 MTR database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MTR 7468 MTR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CLDN2 2041 CLDN2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4933 HLA-C Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA1 6796 MAGEA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ACE2 13557 ACE2 Breast Cancer http://research.nhgri.nih.gov/bic/ 1101 BRCA2 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 1101 BRCA2 BRCA1 database at LOVD-China http://genomed.org/LOVD/BC/home.php?select_db=BRCA2 1101 BRCA2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA2 1101 BRCA2 Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCD1 1101 BRCA2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM133A 26748 FAM133A Parkinson's disease Mutation Database http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=PARK7 16369 PARK7 INFEVERS: The repertory of RMHs sequence variants http://fmf.igh.cnrs.fr/infevers/ 22947 NLRP7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CA5B 1378 CA5B Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=PTRF 9688 PTRF Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCN 26144 PALB2 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations http://fmf.igh.cnrs.fr/infevers/ 16400 NLRP3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LPAR4 4478 LPAR4 UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3 http://bioinf.uta.fi/UNC13Dbase/ 23147 UNC13D Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FUNDC1 28746 FUNDC1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF185 12976 ZNF185 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AMOT 17810 AMOT Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPL35A 10345 RPL35A Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DOK7 26594 DOK7 6-Pyruvoyl-tetrahydropterinsynthase deficiency-BIOMED database http://www.bh4.org/BH4DatabasesBiopku.asp 9689 PTS BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 9689 PTS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=XKRX 29845 XKRX Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPS17 10397 RPS17 CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase) http://bioinf.uta.fi/CIITAbase/ 7067 CIITA Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 7579 MYH9 ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=DSP 3052 DSP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MSN 7373 MSN Eye Diseases - LOVD http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=C2orf71 34383 C2orf71 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLXNB3 9105 PLXNB3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA3 6801 MAGEA3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NLGN4X 14287 NLGN4X Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPL9P7 30335 RPL9P7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf64 34498 CXorf64 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NCBP2L 31795 NCBP2L Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=USP11 12609 USP11 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2024 CLCN6 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 16343 KIR3DP1 Hereditary Hearing Loss Homepage http://webh01.ua.ac.be/hhh/ 7606 MYO7A Mutations of the Myosin VIIa Gene http://www.retina-international.org/files/sci-news/myomut.htm 7606 MYO7A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BGN 1044 BGN Multiple Osteochondroma Mutation Database http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT2 3513 EXT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TFDP3 24603 TFDP3 Mutations of the Tubby-like Protein 1 Gene http://www.retina-international.org/files/sci-news/tulpmut.htm 12423 TULP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HDX 26411 HDX CDKN2a Database Project http://biodesktop.uvm.edu/perl/p16 1787 CDKN2A LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=CDKN2A 1787 CDKN2A Hypercholesterolemia, Familial http://www.ucl.ac.uk/fh/ 6547 LDLR UMD Locus Specific Databases http://www.umd.be/ 6547 LDLR British Heart Foundation http://www.ucl.ac.uk/ldlr/Current/home.php?select_db=LDLR 6547 LDLR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PFKFB1 8872 PFKFB1 Hexosaminidase A; Tay-Sachs Disease http://www.hexdb.mcgill.ca 4878 HEXA ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 4878 HEXA Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 7739 NEFL Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 18294 ALG1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AMMECR1 467 AMMECR1 Long QT Syndrome Database http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm 6251 KCNH2 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 6251 KCNH2 KCNH2 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=KCNH2 6251 KCNH2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ESCO2 27230 ESCO2 IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency http://bioinf.uta.fi/IL7Rbase/ 6024 IL7R Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TMEM257 2562 TMEM257 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GNL3L 25553 GNL3L Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2074 CLN3 Mutations of the CLN3 Gene http://www.retina-international.org/files/sci-news/cln3mut.htm 2074 CLN3 Long QT Syndrome Database http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm 6294 KCNQ1 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 6294 KCNQ1 KCNQ1 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=KCNQ1 6294 KCNQ1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=P2RY8 15524 P2RY8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARMCX1 18073 ARMCX1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=APEX2 17889 APEX2 ZMPSTE24 @ LOVD http://www.LOVD.nl/ZMPSTE24 12877 ZMPSTE24 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=ZMPSTE24 12877 ZMPSTE24 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM45B 30886 FAM45B The Human FOXL2 Allelic Variant Database http://medgen.ugent.be/foxl2/ 1092 FOXL2 LOVD - Center for Medical Genetics, Ghent, Belgium http://medgen.ugent.be/LOVD2/home.php?select_db=FOXL2 1092 FOXL2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CAPN6 1483 CAPN6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AGTR2 338 AGTR2 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=LDB3 15710 LDB3 IKBKGbase: Mutation registry for Nemo deficiency http://bioinf.uta.fi/IKBKGbase/ 5961 IKBKG Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IKBKG 5961 IKBKG SDHC @ LOVD http://www.LOVD.nl/SDHC 10682 SDHC TCA Cycle Gene Mutation Database http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHC 10682 SDHC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARMCX3 24065 ARMCX3 SDHB @ LOVD http://www.LOVD.nl/SDHB 10681 SDHB TCA Cycle Gene Mutation Database http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHB 10681 SDHB Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 2334 CR1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 15968 GDAP1 BLNKbase: Mutation registry for BLNK deficiency http://bioinf.uta.fi/BLNKbase/ 14211 BLNK Mutations of the Human light ear Gene (le, HPS4) http://www.retina-international.org/files/sci-news/lemut.htm 15844 HPS4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RIPPLY1 25117 RIPPLY1 Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.insight-group.org/ 9121 PMS1 Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=PMS1 9121 PMS1 PMS1 database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS1 9121 PMS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SERPINA7 11583 SERPINA7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf58 26356 CXorf58 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYAB 2389 CRYAB Leiden Muscular Dystrophy Pages http://www.LOVD.nl/SGCD 10807 SGCD Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SGCD 10807 SGCD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DGAT2L3 23252 AWAT1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 4014 FUT3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GRIA3 4573 GRIA3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf66 33743 CXorf66 FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 11947 TNNI3 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 16235 DNAJC5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SSX1 11335 SSX1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GAB3 17515 GAB3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLITRK4 23502 SLITRK4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM155B 30701 FAM155B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SHROOM2 630 SHROOM2 Database of genetic variants in patients with chronic pancreatitis http://www.uni-leipzig.de/pancreasmutation/ 11244 SPINK1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 8031 NTRK1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4947 HLA-DRA The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=MAP2K1 6840 MAP2K1 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBS1L 4834 HBS1L Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TRMT2B 25748 TRMT2B DCLRE1Cbase: Mutation registry for Artemis deficiency http://bioinf.uta.fi/DCLRE1Cbase/ 17642 DCLRE1C Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GSPT2 4622 GSPT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TAF1 11535 TAF1 ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes & Relatives http://bioweb.ensam.inra.fr/esther 2226 COLQ Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MTMR8 16825 MTMR8 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 2180 COCH MAPBPIPbase: Mutation registry for endosomal adaptor protein p14 deficiency http://bioinf.uta.fi/MAPBPIPbase/ 29796 LAMTOR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=INE1 6060 INE1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CDR1 1798 CDR1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 6636 LMNA Leiden Muscular Dystrophy Pages http://www.LOVD.nl/LMNA 6636 LMNA UMD Locus Specific Databases http://www.umd.be/ 6636 LMNA Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=LMNA 6636 LMNA TAP2base: Mutation registry for TAP2 deficiency http://bioinf.uta.fi/TAP2base/ 44 TAP2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 44 TAP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC25A6 10992 SLC25A6 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 7207 MPDU1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RNF128 21153 RNF128 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=RNF135 21158 RNF135 HbVar: A Database of Human Hemoglobin Variants and Thalassemias http://globin.cse.psu.edu/globin/hbvar/menu.html 4831 HBG1 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBG1 4831 HBG1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DRP2 3032 DRP2 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2076 CLN5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=WDR44 30512 WDR44 STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4) http://bioinf.uta.fi/STX11base/ 11429 STX11 Mutations of the Phosducin Gene http://www.retina-international.org/files/sci-news/pdcmut.htm 8759 PDC BLMbase: Mutation registry for Bloom Syndrome http://bioinf.uta.fi/BLMbase/ 1058 BLM IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 16312 KIR3DL3 TSH Receptor mutation database http://www.uni-leipzig.de/~innere/tsh/ 12373 TSHR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BCORL1 25657 BCORL1 MCEE database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MCEE 16732 MCEE Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KAL1 6211 KAL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=VGLL1 20985 VGLL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC9A7 17123 SLC9A7 RASGRP2base: Mutation registry for Leukocyte adhesion deficiency III http://bioinf.uta.fi/RASGRP2base/ 9879 RASGRP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FMR1 3775 FMR1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SPIN2A 20694 SPIN2A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEE1 24934 MAGEE1 LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=STRA6 30650 STRA6 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 5959 IKBKAP Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 10918 SLC14A1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SYNE1 17089 SYNE1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PIN4 8992 PIN4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FRMPD3 29382 FRMPD3 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 7323 SEPT9 FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 12010 TPM1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATP1B4 808 ATP1B4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL1RAPL2 5997 IL1RAPL2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM47A 29962 FAM47A ADAbase: Mutation registry for Adenosine Deaminase Deficiency http://bioinf.uta.fi/ADAbase/ 186 ADA GM2A Locus Database http://www.hexdb.mcgill.ca 4367 GM2A DNMT3Bbase: Mutation registry for ICF syndrome http://bioinf.uta.fi/DNMT3Bbase/ 2979 DNMT3B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLITRK2 13449 SLITRK2 Myotilin (TTID) sequence variations http://www.LOVD.nl/MYOT 12399 MYOT Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=MYOT 12399 MYOT ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 2961 DYNC1H1 IRAK4base: Mutation registry for IRAK4 deficiency http://bioinf.uta.fi/IRAK4base/ 17967 IRAK4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MCF2 6940 MCF2 OSTM1base: Autosomal recessive osteopetrosis http://bioinf.uta.fi/OSTM1base/ 21652 OSTM1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM122B 30490 FAM122B IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4952 HLA-DRB4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CITED1 1986 CITED1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf56 26239 CXorf56 Human Polymorphisms of ALDH Genes http://www.aldh.org 404 ALDH2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB4 6811 MAGEB4 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYBB1 2397 CRYBB1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGED2 16353 MAGED2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IRS4 6128 IRS4 Propionyl CoA Carboxylase Page http://cbs.lf1.cuni.cz/pcc/pccmain.htm 8654 PCCB Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 11720 TECTA dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX19 9713 PEX19 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=MAP3K5 6857 MAP3K5 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 19393 HLA-DPA3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SATL1 27992 SATL1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 1613 CCS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA12 6799 MAGEA12 PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations http://fmf.igh.cnrs.fr/infevers/ 9580 PSTPIP1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 10940 SLC1A2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HNRNPH2 5042 HNRNPH2 BTK base: Mutation registry for X-linked agammaglobulinemia http://bioinf.uta.fi/BTKbase/ 1133 BTK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BTK 1133 BTK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ACOT9 17152 ACOT9 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=SCN4A 10591 SCN4A IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6329 KIR2DL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CUL4B 2555 CUL4B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LUZP4 24971 LUZP4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SCML2 10581 SCML2 VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg http://www-huge.uni-regensburg.de/BEST1_database/home.php 12703 BEST1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=COL4A5 2207 COL4A5 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=COL4A5 2207 COL4A5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FLNA 3754 FLNA Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=CFL2 1875 CFL2 TAPBPbase: Mutation registry for Tapasin deficiency http://bioinf.uta.fi/TAPBPbase/ 11566 TAPBP CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency http://bioinf.uta.fi/CD3Dbase/ 1673 CD3D Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA8 6806 MAGEA8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AKAP14 24061 AKAP14 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4945 HLA-DQB2 Phenylalanine Hydroxylase Locus Knowledgebase http://www.pahdb.mcgill.ca 8582 PAH IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4931 HLA-A IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6340 KIR3DS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BMP2KL 17080 BMP2KL Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene http://www.retina-international.org/files/sci-news/rpgripmu.htm 13436 RPGRIP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UBE2NL 31710 UBE2NL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EFNB1 3226 EFNB1 FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 7577 MYH7 ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency http://bioinf.uta.fi/ZAP70base/index2.html 12858 ZAP70 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 33913 HLA-Y Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB1 6808 MAGEB1 LOVD - Center for Medical Genetics, Ghent, Belgium (NF1_germline) http://medgen.ugent.be/LOVD2/home.php?select_db=NF1_germline 7765 NF1 LOVD - Center for Medical Genetics, Ghent, Belgium (NF1_somatic) http://medgen.ugent.be/LOVD2/home.php?select_db=NF1_somatic 7765 NF1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TSPAN6 11858 TSPAN6 TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base) http://bioinf.uta.fi/TMC8base/ 20474 TMC8 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4967 HLA-J Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=VBP1 12662 VBP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NOX1 7889 NOX1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GLOD5 33358 GLOD5 BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome http://bioinf.uta.fi/BIRC4base/ 592 XIAP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=XIAP 592 XIAP The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=NUP133 18016 NUP133 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6339 KIR3DL2 FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base) http://bioinf.uta.fi/FASLGbase/ 11936 FASLG Human Polymorphisms of ALDH Genes http://www.aldh.org/ 406 ALDH4A1 FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 11949 TNNT2 ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=TMEM43 28472 TMEM43 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZC3H12B 17407 ZC3H12B Ornithine Transcarbamylase http://www.cnmcresearch.org/otc/ 8512 OTC OTC - Ornithine transcarbamylase deficiency http://www.LOVD.nl/OTC 8512 OTC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=OTC 8512 OTC LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=OTC 8512 OTC Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 12762 WFS1 Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene http://www.retina-international.org/files/sci-news/rpgrmut.htm 10295 RPGR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPGR 10295 RPGR LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=RPGR 10295 RPGR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPS4X 10424 RPS4X dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX7 8860 PEX7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IGSF1 5948 IGSF1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NAP1L6 31706 NAP1L6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NLGN3 14289 NLGN3 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 4283 GJB1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HDHD1 16818 HDHD1 CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base) http://bioinf.uta.fi/CFHbase/ 4883 CFH Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=H2BFWT 27252 H2BFWT Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TEX13B 11736 TEX13B PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2) http://bioinf.uta.fi/PRF1base/ 9360 PRF1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PSMD10 9555 PSMD10 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CPXCR1 2332 CPXCR1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SGCZ 14075 SGCZ LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD 7150 MLYCD Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 2498 CTDP1 LOVD - Center for Medical Genetics, Ghent, Belgium http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR2 11773 TGFBR2 The TGFBR2 mutations database http://www.umd.be/TGFBR2/ 11773 TGFBR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NDUFA1 7683 NDUFA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NAP1L2 7638 NAP1L2 CASRdb Calcium Sensing Receptor Locus Mutation Database http://www.casrdb.mcgill.ca 1514 CASR Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SSPN 11322 SSPN ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11571 TARDBP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TAF9B 17306 TAF9B BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 408 ALDH5A1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=ALDH5A1 408 ALDH5A1 Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A http://www.LOVD.nl/CAPN3 1480 CAPN3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=CAPN3 1480 CAPN3 MUTYH @ LOVD http://www.LOVD.nl/MUTYH 7527 MUTYH Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=MUTYH 7527 MUTYH Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 7808 NGF UMD Locus Specific Databases http://www.umd.be/ 7010 MEN1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 443 ALS2 CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency http://bioinf.uta.fi/CD3Ebase/index2.html 1674 CD3E Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLS3 9091 PLS3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IQSEC2 29059 IQSEC2 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 6596 LIF WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS) http://bioinf.uta.fi/WASbase/ 12731 WAS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MTMR1 7449 MTMR1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4956 HLA-DRB8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC10A3 22979 SLC10A3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM3A 13749 FAM3A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SSX3 11337 SSX3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SMC1A 11111 SMC1A LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=SMC1A 11111 SMC1A LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/CDLS/home.php?select_db=SMC1A 11111 SMC1A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LAMP2 6501 LAMP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RBMX 9910 RBMX Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GLUD2 4336 GLUD2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 19394 HLA-Z LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=TREX1 12269 TREX1 purple2 http://www.fark.com 37834 QQQQ488115 Albinism Database http://albinismdb.med.umn.edu/ 20145 GPR143 Mutations of the OA1 Gene http://www.retina-international.org/files/sci-news/oa1mut.htm 20145 GPR143 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4937 HLA-DOB CD59base: Mutation registry for CD59 deficiency http://bioinf.uta.fi/CD59base/ 1689 CD59 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 17060 KIFAP3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf41 28570 PIH1D3 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 4017 FUT6 SCN4B database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=SCN4B 10592 SCN4B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM47B 26659 FAM47B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SPANXN1 33174 SPANXN1 Monogenic Diabetes http://grenada.lumc.nl/LOVD2/diabetes/home.php?select_db=GCK 4195 GCK Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPL11 10301 RPL11 Database of the OCRL1 Mutations Causing Lowe Syndrome http://research.nhgri.nih.gov/lowe/ 8108 OCRL LOVD at NCBI http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL 8108 OCRL IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4969 HLA-K Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GLA 4296 GLA MTRR database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MTRR 7473 MTRR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AIFM1 8768 AIFM1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=VAMP7 11486 VAMP7 UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5) http://bioinf.uta.fi/UNGbase/ 12572 UNG TNFRSF13Bbase: Mutation registry for TACI deficiency http://bioinf.uta.fi/TNFRSF13Bbase/ 18153 TNFRSF13B Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=EPCAM 11529 EPCAM Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HDAC6 14064 HDAC6 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=ACTA1 129 ACTA1 NPbase: Mutation registry for PNP deficiency http://bioinf.uta.fi/NPbase/ 7892 PNP The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HAO2 4810 HAO2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 19385 HLA-X Parkinson's disease Mutation Database http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=PINK1 14581 PINK1 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 4284 GJB2 The Connexin-deafness homepage http://davinci.crg.es/deafness/ 4284 GJB2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARMCX4 28615 ARMCX4 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2622 CYP2C8 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 8818 SLC26A4 NRASbase: Mutation registry for autoimmune lymphoproliferative syndrome type IV http://bioinf.uta.fi/NRASbase/ 7989 NRAS DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome http://bioinf.uta.fi/DKC1base/ 2890 DKC1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DKC1 2890 DKC1 Mutations of the P-Gene http://www.retina-international.org/files/sci-news/pgenemut.htm 8101 OCA2 Albinism Database http://albinismdb.med.umn.edu/ 8101 OCA2 Parkinson's disease Mutation Database http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=PARK11 11960 GIGYF2 ORAI1base: Mutation registry for severe combined immunodeficiency http://bioinf.uta.fi/ORAI1base/ 25896 ORAI1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPA4 30305 RPA4 MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1) http://bioinf.uta.fi/MYO5Abase/ 7602 MYO5A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL9R 6030 IL9R Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HDAC8 13315 HDAC8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SYN1 11494 SYN1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TIMM17B 17310 TIMM17B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEC1 6812 MAGEC1 University of Heidelberg http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3E 24005 HTR3E Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARMCX5 25772 ARMCX5 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX3 8858 PEX3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SEPT6 15848 SEPT6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TMEM27 29437 TMEM27 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TCEAL5 22282 TCEAL5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ENOX2 2259 ENOX2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HEPH 4866 HEPH Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DNASE1L1 2957 DNASE1L1 IFNGR1base: Mutation registry for IFNγ1-receptor deficiency http://bioinf.uta.fi/IFNGR1base/ 5439 IFNGR1 Alzheimer Disease & Frontotemporal Dementia Mutation Database http://www.molgen.ua.ac.be/ADMutations/ 9508 PSEN1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 9508 PSEN1 TCN2base: Mutation registry for Transcobalamin II deficiency http://bioinf.uta.fi/TCN2base/ 11653 TCN2 STAT3base: Mutation registry for Hyper-IgE syndrome http://bioinf.uta.fi/STAT3base/ 11364 STAT3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FIGF 3708 FIGF Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAOB 6834 MAOB ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 6834 MAOB Leiden Muscular Dystrophy Pages http://www.LOVD.nl/COL6A2 2212 COL6A2 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=COL6A2 2212 COL6A2 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 7450 MTMR2 Mutations of the Protocadherin 15 Gene http://www.retina-international.org/files/sci-news/pcdhmut.htm 14674 PCDH15 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=VSIG4 17032 VSIG4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DUSP21 20476 DUSP21 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=TOX 18988 TOX Mutations of the Second Mitochondrial Serine tRNA Gene http://www.retina-international.org/files/sci-news/mttsmut.htm 7498 MT-TS2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FRMD7 8079 FRMD7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARHGEF6 685 ARHGEF6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NSDHL 13398 NSDHL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TEX13A 11735 TEX13A Leiden Muscular Dystrophy Pages http://www.LOVD.nl/TRIM32 16380 TRIM32 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TRIM32 16380 TRIM32 LMBRD1 database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=LMBRD1 23038 LMBRD1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TPM3 12012 TPM3 3d Protein C Mutations Database http://www.itb.cnr.it/procmd/ 9451 PROC The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=KL 6344 KL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GABRQ 14454 GABRQ Mutations of the USH2a Gene http://www.retina-international.org/files/sci-news/ush2amut.htm 12601 USH2A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PAGE1 4107 PAGE1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC25A14 10984 SLC25A14 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=MSTN 4223 MSTN IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6337 KIR2DS5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPRASP1 24834 GPRASP1 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 16346 KIR2DL5B Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) http://www.retina-international.org/files/sci-news/cppmut.htm 1012 OPN1SW LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=NSD1 14234 NSD1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FTSJ1 13254 FTSJ1 AKAP9 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=AKAP9 379 AKAP9 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 16841 LITAF Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 15832 BSCL2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4943 HLA-DQA2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UPF3B 20439 UPF3B Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPL5 10360 RPL5 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 17450 CYP3A43 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 11277 SPTLC1 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3586 FANCE Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCE 3586 FANCE Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PNMA6A 28248 PNMA6A Mutations of the Arrestin Gene http://www.retina-international.org/files/sci-news/sagmut.htm 10521 SAG LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=NIPBL 28862 NIPBL LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/CDLS/home.php?select_db=NIPBL 28862 NIPBL SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia http://bioinf.uta.fi/SMARCAL1base/ 11102 SMARCAL1 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 2995 DPAGT1 The Connexin-deafness homepage http://davinci.crg.es/deafness/ 4285 GJB3 Hereditary Hearing Loss Homepage http://webh01.ua.ac.be/hhh/ 4285 GJB3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ALG13 30881 ALG13 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KIAA2022 29433 KIAA2022 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GABRE 4085 GABRE Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS http://research.nhgri.nih.gov/ALPS/ 11920 FAS LOVD at NCBI http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=FAS 11920 FAS Nephrogenic Diabetes Insipidus http://www.medicine.mcgill.ca/nephros/ 897 AVPR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AVPR2 897 AVPR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=POLA1 9173 POLA1 Human Polymorphisms of ALDH Genes http://www.aldh.org/ 405 ALDH3A1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPC4 4452 GPC4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CSF2RA 2435 CSF2RA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=C1GALT1C1 24338 C1GALT1C1 HbVar: A Database of Human Hemoglobin Variants and Thalassemias http://globin.cse.psu.edu/globin/hbvar/menu.html 4824 HBA2 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBA2 4824 HBA2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HCCS 4837 HCCS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TLR8 15632 TLR8 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 15672 ALG9 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2610 CYP2A6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAI2 9835 RAI2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GLRA4 31715 GLRA4 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 2974 DNM2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NHSL2 33737 NHSL2 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2079 CLN8 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6330 KIR2DL2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATP11C 13554 ATP11C Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAMLD1 2568 MAMLD1 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ATP1A2 800 ATP1A2 Familial Hemiplegic Migraine (FHM) Variation Database http://grenada.lumc.nl/LOVD2/FHM/home.php?select_db=ATP1A2 800 ATP1A2 Neurofibromatosis 2 (NF2) mutation database http://www.hgmd.cf.ac.uk/nf2/ 7773 NF2 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 6308 KEL FCGR1Abase: Mutation registry for CD64 deficiency http://bioinf.uta.fi/FCGR1Abase/ 3613 FCGR1A INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations http://fmf.igh.cnrs.fr/infevers/ 6998 MEFV Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.insight-group.org/ 7128 MLH3 Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=MLH3 7128 MLH3 MLH3 database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH3 7128 MLH3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SUV39H1 11479 SUV39H1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATP6AP2 18305 ATP6AP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf57 25486 CXorf57 CD79Bbase: Mutation registry for Igβ deficiency http://bioinf.uta.fi/CD79Bbase/ 1699 CD79B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLXNA3 9101 PLXNA3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DLG3 2902 DLG3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPL36A 10359 RPL36A Androgen Receptor http://androgendb.mcgill.ca/ 644 AR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AR 644 AR ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 644 AR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB3 6810 MAGEB3 Albumin mutation database http://www.albumin.org/ 399 ALB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf59 26708 CHDC2 SERPING1base: Mutation registry for Hereditary angioedema http://bioinf.uta.fi/SERPING1base/ 1228 SERPING1 FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX http://bioinf.uta.fi/FOXP3base/ 6106 FOXP3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FOXP3 6106 FOXP3 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 2187 COL11A2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4964 HLA-G Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UBE2A 12472 UBE2A The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP 436 ALOX5AP Albinism Database http://albinismdb.med.umn.edu/ 1968 LYST LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base) http://bioinf.uta.fi/LYSTbase/ 1968 LYST Mutations of the Chediak Higashi Syndrome http://www.retina-international.org/files/sci-news/chsmut.htm 1968 LYST The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=CSNK2A1 2457 CSNK2A1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NUP62CL 25960 NUP62CL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATP2B3 816 ATP2B3 GAA - Pompe disease (glycogen storage disease type II) http://www.LOVD.nl/GAA 4065 GAA LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=GAA 4065 GAA ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 4010 FUS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CD99L2 18237 CD99L2 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYGD 2411 CRYGD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM9A 18403 FAM9A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FMR1NB 26372 FMR1NB MMADHC database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MMADHC 25221 MMADHC Hereditary Hearing Loss Homepage http://webh01.ua.ac.be/hhh/ 9220 POU4F3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA4 6802 MAGEA4 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) http://www.retina-international.org/files/sci-news/cppmut.htm 4206 OPN1MW Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 445 SETX LOVD - Leiden Open Variation Database http://www.geschwind.med.ucla.edu/LOVD/home.php?select_db=SETX 445 SETX ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 445 SETX Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GLRA2 4327 GLRA2 Mutations of the Rhodopsin Kinase Gene http://www.retina-international.org/files/sci-news/rhokmut.htm 10013 GRK1 C6base: Mutation registry for C6 deficiency http://bioinf.uta.fi/C6base/index2.html 1339 C6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BHLHB9 29353 BHLHB9 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=AGRN 329 AGRN Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NKRF 19374 NKRF UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis) http://bioinf.uta.fi/UNC93B1base/ 13481 UNC93B1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SIAH1L 30966 SIAH1P1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DYNLT3 11694 DYNLT3 Cystic Fibrosis http://www.genet.sickkids.on.ca/cftr/ 1884 CFTR Mutations of the Transducin Subunits http://www.retina-international.org/files/sci-news/gntmut.htm 4394 GNAT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf38 28589 CXorf38 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TAF7L 11548 TAF7L B3GALTL - Peters' Plus syndrome http://www.LOVD.nl/B3GALTL 20207 B3GALTL LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=B3GALTL 20207 B3GALTL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NAP1L3 7639 NAP1L3 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 16513 TMC1 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 4703 GYPB ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 6664 LOX Mutations of the Norrie Disease Gene http://www.retina-international.org/files/sci-news/ndgmut.htm 7678 NDP Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene http://www.retina-international.org/files/sci-news/gcmut.htm 4689 GUCY2D Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf21 25667 CXorf21 LOVD 2.0 - ROR2 http://grenada.lumc.nl/LOVD2/test/home.php?select_db=ROR2 10257 ROR2 MUT database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MUT 7526 MUT Parkinson's disease Mutation Database http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=LRRK2 18618 LRRK2 ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives http://bioweb.ensam.inra.fr/esther 983 BCHE Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PCYT1B 8755 PCYT1B Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 2035 CLDN14 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=COL4A6 2208 COL4A6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HSD17B10 4800 HSD17B10 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/POMT2 19743 POMT2 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=POMT2 19743 POMT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KIF4A 13339 KIF4A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PJA1 16648 PJA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ASMTL 751 ASMTL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=WDR13 14352 WDR13 RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2) http://bioinf.uta.fi/RAB27Abase/ 9766 RAB27A Mutations of the Small Nucleotide-binding Protein 27a Gene http://www.retina-international.org/files/sci-news/rab27mut.htm 9766 RAB27A CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2) http://bioinf.uta.fi/CASP10base/ 1500 CASP10 C1QCbase: Mutation registry for C1qC deficiency http://bioinf.uta.fi/C1QCbase/ 1245 C1QC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BEX4 25475 BEX4 MMACHC database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MMACHC 24525 MMACHC Familial Hemiplegic Migraine (FHM) Variation Database http://grenada.lumc.nl/LOVD2/FHM/home.php?select_db=SCN1A 10585 SCN1A Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2615 CYP2B6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SRPX2 30668 SRPX2 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=GATM 4175 GATM LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=CACNA1A 1388 CACNA1A Familial Hemiplegic Migraine (FHM) Variation Database http://grenada.lumc.nl/LOVD2/FHM/home.php?select_db=CACNA1A 1388 CACNA1A dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX6 8859 PEX6 Monogenic Diabetes http://grenada.lumc.nl/LOVD2/diabetes/home.php?select_db=HNF4A 5024 HNF4A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAB40AL 25410 RAB40AL Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB6 23796 MAGEB6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SMARCA1 11097 SMARCA1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LAS1L 25726 LAS1L The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=ARG2 664 ARG2 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 16877 MFN2 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 9325 PPT1 Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene http://www.retina-international.org/files/sci-news/pptmut.htm 9325 PPT1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYAA 2388 CRYAA LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=SOX2 11195 SOX2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SYTL5 15589 SYTL5 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 19406 HLA-N Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR64 4516 GPR64 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 7090 MICA Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 79 ABO LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=GAMT 4136 GAMT Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 2711 DCTN1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 2711 DCTN1 Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCM 23168 FANCM Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LONRF3 21152 LONRF3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RLIM 13429 RLIM Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEA11 6798 MAGEA11 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GEMIN8 26044 GEMIN8 Congenital Disorder of Glycosylation pages http://www.euroglycanet.org/ 3005 DPM1 Zhejiang University Center for Genetic and Genomic Medicine http://www.china-hvp.org/LOVD/home.php?select_db=KRT9 6447 KRT9 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FOXO4 7139 FOXO4 POMGNT1 @ LOVD http://www.LOVD.nl/POMGNT1 19139 POMGNT1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=POMGNT1 19139 POMGNT1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 483 ANG Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SHROOM4 29215 SHROOM4 ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=PKP2 9024 PKP2 Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 2810 DFNA5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARMCX2 16869 ARMCX2 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) http://www.retina-international.org/files/sci-news/cppmut.htm 9936 OPN1LW Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BEND2 28509 BEND2 MPObase: Mutation registry for Myeloperoxidase deficiency http://bioinf.uta.fi/MPObase/ 7218 MPO Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL13RA2 5975 IL13RA2 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4935 HLA-DMB ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11237 SPG7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZXDA 13198 ZXDA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATP7A 869 ATP7A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MUM1L1 26583 MUM1L1 PFCbase: Mutation registry for properdin deficiency http://bioinf.uta.fi/PFCbase/ 8864 CFP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CFP 8864 CFP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PGRMC1 16090 PGRMC1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAOA 6833 MAOA IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 23478 HLA-T Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CLCN4 2022 CLCN4 GTP Cyclohydrolase I deficiency; BIOMED/BIODEF database http://www.bh4.org/BH4DatabasesBiopku.asp 4193 GCH1 BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 4193 GCH1 Haemophilia B Mutation Database http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html 3551 F9 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=F9 3551 F9 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZC4H2 24931 ZC4H2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR173 18186 GPR173 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RENBP 9959 RENBP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MXRA5 7539 MXRA5 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 20748 FANCL Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCL 20748 FANCL Leiden Muscular Dystrophy Pages http://www.LOVD.nl/COL6A1 2211 COL6A1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=COL6A1 2211 COL6A1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 12649 VAPB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB18 28515 MAGEB18 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4941 HLA-DPB2 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2529 CTSD Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SYNE2 17084 SYNE2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PHKA2 8926 PHKA2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PGAM4 21731 PGAM4 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 20575 CYP4A22 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CSTF2 2484 CSTF2 AICDA base: Mutation registry for Aid deficiency http://bioinf.uta.fi/AICDAbase/ 13203 AICDA LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=CREBBP 2348 CREBBP IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4954 HLA-DRB6 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 16344 KIR2DP1 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX12 8854 PEX12 Diamond-Blackfan Anemia http://www.dbagenes.unito.it/home.php?select_db=RPS7 10440 RPS7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ELF4 3319 ELF4 Database of WS-associated WRN mutations http://www.pathology.washington.edu/werner/ws_wrn.html 12791 WRN Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PNPLA4 24887 PNPLA4 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 13797 PRX FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase) http://bioinf.uta.fi/FOXN1base/ 12765 FOXN1 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/FKRP 17997 FKRP Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=FKRP 17997 FKRP HAX1base: Mutation registry for severe congenital neutropenia (Kostmann disease) http://bioinf.uta.fi/HAX1base/ 16915 HAX1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf24 27333 CXorf24 Arylamine N-Acetyltransferase http://www.louisville.edu/medschool/pharmacology/NAT.html 7645 NAT1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RGAG4 29430 RGAG4 Mutations of the Bardet-Biedl Syndrome Type 2 Gene http://www.retina-international.org/files/sci-news/bbs2mut.htm 967 BBS2 Mutations of the Protein Kinase C γ http://www.retina-international.org/files/sci-news/prkcgmut.htm 9402 PRKCG IMGT; the international ImMunoGeneTics information system ® http://www.imgt.org 5716 IGKC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UPRT 28334 UPRT SPINK5base: Mutation registry for Netherton syndrome http://bioinf.uta.fi/SPINK5base/ 15464 SPINK5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TCEAL2 29818 TCEAL2 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/SGCG 10809 SGCG Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SGCG 10809 SGCG MMAB database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MMAB 19331 MMAB Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2637 CYP3A4 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 4886 HFE purple2 http://www.fark.com 33305 QQQQT2a1a UMD Locus Specific Databases http://www.umd.be/ 3603 FBN1 A Database For Human Fibrinogen Variants http://www.geht.org/databaseang/fibrinogen/ 3662 FGB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FRMPD4 29007 FRMPD4 ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=TGFB3 11769 TGFB3 NGRL, Manchester LOVD http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=UBE3A 12496 UBE3A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=APLN 16665 APLN ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 9205 PON2 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/growth/home.php?select_db=IGF1R 5465 IGF1R MutDB Gene: CALCA http://mutdb.org/cgi-bin/mutdb.pl?id=CALCA&geneid=796 1437 CALCA X-Linked Juvenile Retinoschisis http://www.LOVD.nl/RS1 10457 RS1 Mutations of the X-linked Retinoschisis Gene http://www.retina-international.org/files/sci-news/xlrsmut.htm 10457 RS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RS1 10457 RS1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=RS1 10457 RS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=XG 12806 XG UMD Locus Specific Databases http://www.umd.be/ 3012 DPYD Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DAG1 2666 DAG1 CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox http://bioinf.uta.fi/CYBAbase/ 2577 CYBA Congenital Disorder of Glycosylation pages http://www.euroglycanet.org/ 23056 ALG3 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=SOST 13771 SOST Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 25568 FANCI Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCI 25568 FANCI Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf15 18578 TXLNG Mutations of the ATP-binding Cassette Transporter Retina http://www.retina-international.org/files/sci-news/abcrmut.htm 34 ABCA4 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4962 HLA-E Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PIM2 8987 PIM2 Alzheimer Disease & Frontotemporal Dementia Mutation Database http://www.molgen.ua.ac.be/ADMutations/ 620 APP LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=TCF4 11634 TCF4 C7base: Mutation registry for C7 deficiency http://bioinf.uta.fi/C7base/index2.html 1346 C7 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX2 9717 PEX2 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2625 CYP2D6 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 2625 CYP2D6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ASB12 19763 ASB12 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IGBP1 5461 IGBP1 G6PD Mutations http://www.bioinf.org.uk/g6pd/ 4057 G6PD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=G6PD 4057 G6PD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GRIPAP1 18706 GRIPAP1 TAZbase: Mutation registry for Barth syndrome http://bioinf.uta.fi/TAZbase/ 11577 TAZ Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf25 27864 CXXC1P1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAB41 18293 RAB41 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC9A6 11079 SLC9A6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SMS 11123 SMS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf27 18417 CXorf27 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 4013 FUT2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BEX2 30933 BEX2 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 4705 GYPE CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2 http://bioinf.uta.fi/CLCN7base/ 2025 CLCN7 Alpha - Synuclein Locus Mutation Database http://www.med.upatras.gr/athanassiadou/snca_lsdb.pdf 11138 SNCA Parkinson's disease Mutation Database http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=SNCA 11138 SNCA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NHS 7820 NHS Mutations of the 11-cis Retinol Dehydrogenase Gene http://www.retina-international.org/files/sci-news/rdhmut.htm 9940 RDH5 STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency http://bioinf.uta.fi/STAT5Bbase/ 11367 STAT5B LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/growth/home.php?select_db=STAT5B 11367 STAT5B IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 23477 HLA-U Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRICKLE3 6645 PRICKLE3 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 20473 BRIP1 Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCJ 20473 BRIP1 The Connexin-deafness homepage http://davinci.crg.es/deafness/ 4288 GJB6 Hereditary Hearing Loss Homepage http://webh01.ua.ac.be/hhh/ 4288 GJB6 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 15743 ERMAP Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 7605 MYO6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SH3KBP1 13867 SH3KBP1 BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 2689 DBH SDHD @ LOVD http://www.LOVD.nl/SDHD 10683 SDHD TCA Cycle Gene Mutation Database http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHD 10683 SDHD Adenylosuccinate Lyase Mutations Database Home Page http://www.icp.ucl.ac.be/adsldb/ 291 ADSL Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 11190 SOX10 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=SOX10 11190 SOX10 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AKAP4 374 AKAP4 SH2base: Database for pathogenic SH2 domain mutations http://bioinf.uta.fi/SH2base/ 8979 PIK3R1 Gene Connection for the Heart http://www.fsm.it/cardmoc/ 6263 KCNJ2 KCNJ2 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=KCNJ2 6263 KCNJ2 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYGC 2410 CRYGC Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAB9B 14090 RAB9B HEXB Locus Database http://www.hexdb.mcgill.ca 4879 HEXB Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAB33A 9773 RAB33A Leiden Muscular Dystrophy Pages http://www.LOVD.nl/DYSF 3097 DYSF Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DYSF 3097 DYSF Leiden Muscular Dystrophy Pages http://www.LOVD.nl/SGCE 10808 SGCE Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SGCE 10808 SGCE Ataxia Telangiectasia Mutated (ATM) http://www.LOVD.nl/ATM 795 ATM LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ATM 795 ATM Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM9C 18405 FAM9C CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis) http://bioinf.uta.fi/CXCR4base/ 2561 CXCR4 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6334 KIR2DS2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=P2RY10 19906 P2RY10 SDHA @ LOVD http://www.LOVD.nl/SDHA 10680 SDHA TCA Cycle Gene Mutation Database http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHA 10680 SDHA SBDSbase: Mutation registry for Shwachman-Diamond syndrome http://bioinf.uta.fi/SBDSbase/ 19440 SBDS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IRAK1 6112 IRAK1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRRG3 30798 PRRG3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SOX3 11199 SOX3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARHGAP4 674 ARHGAP4 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=PAX3 8617 PAX3 IMGT; the international ImMunoGeneTics information system ® http://www.imgt.org 5480 IGHD University of Heidelberg http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3B 5298 HTR3B The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=KDR 6307 KDR Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2596 CYP1A2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IDS 5389 IDS Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 29427 SH3TC2 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 30171 HSPB8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PQBP1 9330 PQBP1 CASP8base: Mutation registry for Caspase 8 deficiency http://bioinf.uta.fi/CASP8base/ 1509 CASP8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM46D 28399 FAM46D CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase) http://bioinf.uta.fi/DFbase/ 2771 CFD Database of genetic variants in patients with chronic pancreatitis http://www.uni-leipzig.de/pancreasmutation/ 9475 PRSS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ATXN3L 24173 ATXN3L Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ELK1 3321 ELK1 TLR3base: Mutation registry for Influenza-associated encephalopathy http://bioinf.uta.fi/TLR3base/ 11849 TLR3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SEPN1 15999 SEPN1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AWAT2 23251 AWAT2 TYK2base: Mutation registry for TYK2 deficiency http://bioinf.uta.fi/TYK2base/ 12440 TYK2 NROB1 - adrenal hypoplasia (DAX1) http://www.LOVD.nl/NROB1 7960 NR0B1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NR0B1 7960 NR0B1 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=NR0B1 7960 NR0B1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PPP2R3B 13417 PPP2R3B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=WWC3 29237 WWC3 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2638 CYP3A5 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=L2HGDH 20499 L2HGDH Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB2 6809 MAGEB2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ODZ1 8117 TENM1 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 23159 ALG2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC38A5 18070 SLC38A5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=LANCL3 24767 LANCL3 Factor VII Mutation Database; & Factor VIII: The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS) http://europium.csc.mrc.ac.uk/ 3546 F8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=F8 3546 F8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PDK3 8811 PDK3 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 11609 TBXAS1 CD19base: Mutation registry for CD19 deficiency http://bioinf.uta.fi/CD19base/ 1633 CD19 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DIAPH2 2877 DIAPH2 FCGR3Abase: Mutation registry for Natural killer cell deficiency http://bioinf.uta.fi/FCGR3Abase/ 3619 FCGR3A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPM6B 4461 GPM6B The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=GPM6B 4461 GPM6B LOVD - Center for Medical Genetics, Ghent, Belgium http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR1 11772 TGFBR1 CD8Abase: Mutation registry for CD8 deficiency http://bioinf.uta.fi/CD8Abase/ 1706 CD8A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRPS1 9462 PRPS1 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=NOS3 7876 NOS3 C1QAbase: Mutation registry for C1qA deficiency http://bioinf.uta.fi/C1QAbase/index2.html 1241 C1QA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SASH3 15975 SASH3 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 9204 PON1 Fanconi Anaemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/ 3582 FANCA Fanconi anemia database http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCA 3582 FANCA The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=ERCC2 3434 ERCC2 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=MAP3K7 6859 MAP3K7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=UBQLN2 12509 UBQLN2 BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 11782 TH Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARSE 719 ARSE Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 28486 MFSD8 Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachy cardia database http://www.fsm.it/cardmoc/ 10484 RYR2 Limb-Girdle Muscular Dystrophy type 1C http://www.LOVD.nl/CAV3 1529 CAV3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=CAV3 1529 CAV3 CAV3 database at LOVD-China http://genomed.org/LOVD/LQTs/home.php?select_db=CAV3 1529 CAV3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=GK 4289 GK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GK 4289 GK HbVar: A Database of Human Hemoglobin Variants and Thalassemias http://globin.cse.psu.edu/globin/hbvar/menu.html 4823 HBA1 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBA1 4823 HBA1 Albinism Database http://albinismdb.med.umn.edu/ 5163 HPS1 Mutations of the ep-Gene http://www.retina-international.org/files/sci-news/epmut.htm 5163 HPS1 Mutations of the HPS Gene http://www.retina-international.org/files/sci-news/hpsmut.htm 5163 HPS1 Neuronal Ceroid Lipofuscinoses; NCL Mutations http://www.ucl.ac.uk/ncl/ 2077 CLN6 C8Bbase: Mutation registry for C8B deficiency http://bioinf.uta.fi/C8Bbase/ 1353 C8B MMAA database at LOVD-China http://www.genomed.org/lovd/mma/home.php?select_db=MMAA 18871 MMAA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf30 27298 CXorf30 Leiden Muscular Dystrophy Pages http://www.LOVD.nl/TCAP 11610 TCAP Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TCAP 11610 TCAP Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ACTRT1 24027 ACTRT1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CT45A5 33270 CT45A5 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=SMAD6 6772 SMAD6 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX26 22965 PEX26 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ITM2A 6173 ITM2A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ASMT 750 ASMT Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 12811 XK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=XK 12811 XK FHC Mutation Database http://www.angis.org.au/Databases/Heart/heartbreak.html 12403 TTN TTN @ LOVD http://www.LOVD.nl/TTN 12403 TTN Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TTN 12403 TTN Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SSX6 19652 SSX6 purple2 http://www.fark.com 33304 QQQQT@ Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 9115 PMM2 CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome http://bioinf.uta.fi/CD40Lbase/ 11935 CD40LG Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CD40LG 11935 CD40LG Propionyl CoA Carboxylase Page http://cbs.lf1.cuni.cz/pcc/pccmain.htm 8653 PCCA Human Polymorphisms of ALDH Genes http://www.aldh.org 402 ALDH1A1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf65 33713 CXorf65 Mutations of the Rab Escort Protein 1 http://www.retina-international.org/files/sci-news/repmut.htm 1940 CHM Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CHM 1940 CHM Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KLHL15 29347 KLHL15 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLCXD1 23148 PLCXD1 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=LRP5 6697 LRP5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RPL10 10298 RPL10 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PNMA3 18742 PNMA3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=NEB 7720 NEB Wilson Disease Mutation Database http://www.medicalgenetics.med.ualberta.ca/wilson/index.php 870 ATP7B UMD Locus Specific Databases http://www.umd.be/ 870 ATP7B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLP2 9087 PLP2 Autosomal Dominant Polycystic Kidney Disease (ADPKD) http://grenada.lumc.nl/LOVD2/PKD/home.php?select_db=PKD1 9008 PKD1 CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base) http://bioinf.uta.fi/CD40base/ 11919 CD40 F12base: Mutation registry for Hereditary angioedema type III http://bioinf.uta.fi/F12base/ 3530 F12 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RBM10 9896 RBM10 IARC TP53 Mutation Database http://www-p53.iarc.fr/ 11998 TP53 p53 Mutation in Human Cancer http://p53.free.fr/ 11998 TP53 Database of Germline p53 Mutations http://www.lf2.cuni.cz/projects/germline_mut_p53.htm 11998 TP53 MUTP53LOAD, Mutant p53 Loss Of Activity Database http://www.umd.be:2072/ 11998 TP53 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4934 HLA-DMA IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 19395 HLA-S Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ITIH5L 28907 ITIH6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=L1CAM 6470 L1CAM NGRL, Manchester LOVD http://ngrl.man.ac.uk/lovd2/home.php?select_db=L1CAM 6470 L1CAM LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/L1CAM/home.php?select_db=L1CAM 6470 L1CAM LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=CPS1 2323 CPS1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EGFL6 3235 EGFL6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CENPI 3968 CENPI Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ASB11 17186 ASB11 CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase) http://bioinf.uta.fi/CFIbase/ 5394 CFI Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=NXF5 8075 NXF5 The Folliculin Mutation Database http://www.skingenedatabase.com/home.php?select_db=FLCN 27310 FLCN ARVD/C Genetic Variants Database http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=DSG2 3049 DSG2 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=MYB 7545 MYB INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations http://fmf.igh.cnrs.fr/infevers/ 14450 LPIN2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CASK 1497 CASK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR174 30245 GPR174 Mutations of the MER Receptor Tyrosine Kinase Gene http://www.retina-international.org/files/sci-news/mertkmut.htm 7027 MERTK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM50A 18786 FAM50A BIOMBD http://www.biopku.org/dbsearches/BIOMDB_Start.asp 11257 SPR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=USP51 23086 USP51 Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.insight-group.org/ 7325 MSH2 Mismatch Repair Genes Variant Database http://www.med.mun.ca/mmrvariants/ 7325 MSH2 Colon cancer gene variant databases http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=MSH2 7325 MSH2 MSH2 database at LOVD-China http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH2 7325 MSH2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=HCFC1 4839 HCFC1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=USP26 13485 USP26 Multiple Osteochondroma Mutation Database http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT1 3512 EXT1 ICOSbase: Mutation registry for ICOS deficiency http://bioinf.uta.fi/ICOSbase/ 5351 ICOS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=EIF2S3 3267 EIF2S3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PHF16 22982 PHF16 dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX5 9719 PEX5 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF449 21039 ZNF449 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 587 APEX1 LIG1base: Mutation registry for DNA ligase I deficiency http://bioinf.uta.fi/LIG1base/ 6598 LIG1 Mutations of the L-type Calcium-Channel Gene http://www.retina-international.org/files/sci-news/cacnamut.htm 1393 CACNA1F Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CACNA1F 1393 CACNA1F NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR http://bioinf.uta.fi/NHEJ1base/ 25737 NHEJ1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=MTM1 7448 MTM1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MTM1 7448 MTM1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRPS2 9465 PRPS2 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=MITF 7105 MITF PHEXdb Locus Database http://www.phexdb.mcgill.ca 8918 PHEX LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=EP300 3373 EP300 IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency http://bioinf.uta.fi/IL12RB1base/ 5971 IL12RB1 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6338 KIR3DL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GYG2 4700 GYG2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TRO 12326 TRO University of Heidelberg http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3C 24003 HTR3C Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF630 28855 ZNF630 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4948 HLA-DRB1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KCNE1L 6241 KCNE1L Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PAGE3 4110 PAGE3 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TNNT1 11948 TNNT1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CT45A2 28400 CT45A2 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 4702 GYPA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TCEAL8 28683 TCEAL8 RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency http://bioinf.uta.fi/RFXAPbase/ 9988 RFXAP dbPEX, PEX Gene Database http://www.dbpex.org/home.php?select_db=PEX14 8856 PEX14 C2base: Mutation registry for C2 deficiency http://bioinf.uta.fi/C2base/index2.html 1248 C2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=BMX 1079 BMX Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF711 13128 ZNF711 SH2base: Database for pathogenic SH2 domain mutations http://bioinf.uta.fi/SH2base/ 9871 RASA1 Human Intermediate Filament Mutation Database http://www.interfil.org/ 1041 BFSP2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=USP9X 12632 USP9X Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPR101 14963 GPR101 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAM47C 25301 FAM47C Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CTAG2 2492 CTAG2 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 924 B4GALT1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TBX22 11600 TBX22 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 21196 HLA-P Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 4162 GARS ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 4162 GARS Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KLHL4 6355 KLHL4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PGK1 8896 PGK1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZFX 12869 ZFX Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2594 CYP19A1 IPD-KIR Database http://www.ebi.ac.uk/ipd/kir/ 6332 KIR2DL4 British Heart Foundation http://www.ucl.ac.uk/ldlr/Current/home.php?select_db=PCSK9 20001 PCSK9 Prion Protein/CJD database http://www.mad-cow.org/~tom/prion_point_mutations.html 9449 PRNP ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11233 SPAST Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=FHL1 3702 FHL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FHL1 3702 FHL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARSF 721 ARSF ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 613 APOE NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency http://bioinf.uta.fi/NFKBIAbase/ 7797 NFKBIA Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MSL3 7370 MSL3 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KCND1 6237 KCND1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ZNF81 13156 ZNF81 FCMD - Fukuyama type congenital muscular dystrophy http://www.LOVD.nl/FCMD 3622 FKTN Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=FKTN 3622 FKTN ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11118 SMN2 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 7737 NEFH Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MOSPD2 28381 MOSPD2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEB10 25377 MAGEB10 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SAGE1 30369 SAGE1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RGAG1 29245 RGAG1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TMLHE 18308 TMLHE Mutations of the Lecithin Retinol Acyltransferase Gene http://www.retina-international.org/files/sci-news/lratmut.htm 6685 LRAT Leiden Muscular Dystrophy Pages http://www.LOVD.nl/SGCB 10806 SGCB Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=SGCB 10806 SGCB IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4957 HLA-DRB9 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RAB39B 16499 RAB39B Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf22 28546 CXorf22 Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2631 CYP2E1 RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency http://bioinf.uta.fi/RFXANKbase/ 9987 RFXANK Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEH1 24092 MAGEH1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MORC4 23485 MORC4 Mutations of the RPE65 Gene http://www.retina-international.org/files/sci-news/rpe65mut.htm 10294 RPE65 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEE2 24935 MAGEE2 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=AQP9 643 AQP9 NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox http://bioinf.uta.fi/NCF1base/ 7660 NCF1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GDPD2 25974 GDPD2 Mutations of the RNA Processing Factor 31 http://www.retina-international.org/files/sci-news/prp31mut.htm 15446 PRPF31 JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency http://bioinf.uta.fi/JAK3base/ 6193 JAK3 A Database For Human Fibrinogen Variants http://www.geht.org/databaseang/fibrinogen/ 3661 FGA IGHG2base: Mutation registry for IgG2 deficiency http://bioinf.uta.fi/IGHG2base/ 5526 IGHG2 Mutations of the Harmonin Gene http://www.retina-international.org/files/sci-news/ush1cmut.htm 12597 USH1C Leiden Muscular Dystrophy Pages http://www.dmd.nl 2928 DMD Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DMD 2928 DMD Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=DMD_d 2928 DMD Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=DMD 2928 DMD Hereditary Hearing Loss Homepage http://webhost.ua.ac.be/hhh/ 3522 EYA4 Congenital Disorder of Glycosylation pages http://www.euroglycanet.org/ 20197 SLC35C1 SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base) http://bioinf.uta.fi/SLC35C1base/ 20197 SLC35C1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARHGAP6 676 ARHGAP6 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PCDH19 14270 PCDH19 LOVD http://lsdb.hgu.mrc.ac.uk/home.php?select_db=PAX6 8620 PAX6 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=TNNI2 11946 TNNI2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AFF2 3776 AFF2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CNGA2 2149 CNGA2 Blood Group Antigen Mutation Database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 10006 RHAG Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2640 CYP3A7 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GPRASP2 25169 GPRASP2 Mutations of the Tyrosinase-related Protein 1 Gene http://www.retina-international.org/files/sci-news/trp1mut.htm 12450 TYRP1 Albinism Database http://albinismdb.med.umn.edu/ 12450 TYRP1 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 7456 MT-ND2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GUCY2F 4691 GUCY2F Leiden Muscular Dystrophy Pages http://www.LOVD.nl/POMT1 9202 POMT1 Leiden Muscular Dystrophy pages http://www.dmd.nl/nmdb2/home.php?select_db=POMT1 9202 POMT1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MED14 2370 MED14 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MAGEC3 23798 MAGEC3 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=NOX3 7890 NOX3 HbVar: A Database of Human Hemoglobin Variants and Thalassemias http://globin.cse.psu.edu/globin/hbvar/menu.html 4832 HBG2 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=HBG2 4832 HBG2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SLC6A14 11047 SLC6A14 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=RNF113A 12974 RNF113A Human Cytochrome P450 (CYP) Allele Nomenclature Committee http://www.cypalleles.ki.se/ 2600 CYP21A2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SFRS17A 18783 AKAP17A Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FATE1 24683 FATE1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYGS 2417 CRYGS LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/home.php?select_db=ABCA13 14638 ABCA13 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PRDX4 17169 PRDX4 Cerebrotendinous Xanthomatosis http://grenada.lumc.nl/LOVD2/ctx/home.php?select_db=CYP27A1 2605 CYP27A1 Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/ 7679 NDRG1 IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4970 HLA-L IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 23425 HLA-W Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=MID1 7095 MID1 Mutations of the RP1 Gene http://www.retina-international.org/files/sci-news/rp1mut.htm 10263 RP1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CTPS2 2520 CTPS2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=KRBOX4 26007 KRBOX4 Albinism Database http://albinismdb.med.umn.edu/ 12442 TYR Mutations of the Tyrosinase Gene http://www.retina-international.org/files/sci-news/tyrmut.htm 12442 TYR Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL1RAPL1 5996 IL1RAPL1 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TNMD 17757 TNMD IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4939 HLA-DPA2 Congenital Disorders of Glycosylation pages http://www.euroglycanet.org/ 23161 ALG8 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=TRPC5 12337 TRPC5 ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I) http://bioinf.uta.fi/ITGB2base/ 6155 ITGB2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=THOC2 19073 THOC2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=YY2 31684 YY2 The Globin Gene Server http://lovd.bx.psu.edu/home.php?select_db=PDE7B 8792 PDE7B IMGT/HLA Database http://www.ebi.ac.uk/imgt/hla/ 4951 HLA-DRB3 TSC Mutation Database http://www.LOVD.nl/TSC1 12362 TSC1 Tuberous sclerosis database http://chromium.liacs.nl/LOVD2/TSC/home.php?select_db=TSC1 12362 TSC1 Mutations of the Rhodopsin Gene http://www.retina-international.org/files/sci-news/rhomut.htm 10012 RHO Breast Cancer http://research.nhgri.nih.gov/bic/ 1100 BRCA1 BRCA1 database at LOVD-China http://genomed.org/LOVD/BC/home.php?select_db=BRCA1 1100 BRCA1 LOVD - Leiden Open Variation Database http://chromium.liacs.nl/LOVD2/cancer/home.php?select_db=BRCA1 1100 BRCA1 Database on Transthyretin Mutations http://www.ibmc.up.pt/mjsaraiva/ttrmut.html 12405 TTR ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database http://alsod.iop.kcl.ac.uk/ 11179 SOD1 Mutations of the Optic Atrophy 1 Gene http://www.retina-international.org/files/sci-news/opa1mut.htm 8140 OPA1 LOVD - Leiden Open Variation Database http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYBA4 2396 CRYBA4 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CXorf36 25866 CXorf36 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FOXR2 30469 FOXR2 Mental Retardation database http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=CLIC2 2063 CLIC2