人类基因突变及疾病相关数据库

　　HMGD - Human Gene Mutation db

　　SVD - Sequence variation db

　　HGBASE - Human Genic Bi-Allelic Sequences db

　　The SNP consortium

　　dbSNP - Human single nucleotide polymorphism (SNP) db

　　List of mutation databases from IMT (Finland)

　　Alpha-glucosidase - Information about human acid alpha-glucosidase (GSD-II)

　　AR mutations - Human androgen receptor mutation db

　　Antithrombin mutation db

　　Asthma and Allergy gene db

　　BIOMDB - Db of mutations causing tetrahydrobiopterin deficiencies

　　BLMbase - Human BLM mutation db (Bloom snydrom)

　　BTKbase - Human BTK mutation db (X-linked agammaglobulinemia)

　　CD40Lbase - Human CD40 ligand mutation db

　　COL1/3 mutation - Human Type I and III collagen mutation db

　　CFTR mutation - Human cystic fibrosis mutation db (CFTR)

　　EMD db - Human Emerin (EMD) mutation db (Emery-Dreifuss muscular dystrophy)

　　KMeyeDB - Eye disease genes db

　　FVII mutation - Human Factor VII mutation db

　　HAMSTeRS - Human Factor VIII mutation db (Haemophilia A)

　　HAeMB - Human Factor IX mutation db (Haemophilia B)

　　FBN1 mutation - Human fibrillin 1 mutation db (Marfan syndrome)

　　G6PD - Human G6PD deficiency resource

　　Galt mutation - Human galactose-1-phosphate uridylyltransferase mutation db (Galactosemia)

　　HEXAdb - Human Hexosaminidase A mutation db (Tay-sachs disease)

　　IL2RGbase - Human IL2RG (Interleukin-2 receptor gamma) mutation db (X-SCID)

　　L1CAM mutation - Human L1CAM mutation db

　　LDLR mutation - Human LDLR mutation db (Familial hypercholesterolemia)

　　LQTSdb - Long QT syndrome db

　　NCF1base - Human NCF1 mutation db

　　NCF2base - Human NCF2 mutation db

　　Neuromuscular diseases web site

　　NCL - Neuronal Ceroid Lipofuscinoses mutation db

　　OTCase - Human ornithine transcarbamylase (OTCase) website

　　Cytochrome P450 alleles nomenclature

　　p53 mutation db - University of Tokyo p53 mutation db

　　Germline p53 mutation db - University of Prague db of germline p53 mutations

　　PAHdb - Human phenylalanine hydroxylase (PAH) mutation db

　　PAX6 mutation - Human PAX6 mutation db

　　Prion - Prion and prion disease web site

　　RAG1base - Human RAG1 mutation db

　　RAG2base - Human RAG2 mutation db

　　RB1base - Human retinoblastoma-associated protein (RB) mutation db

　　RetNet - Retinal Information Network

　　Retina International Scientific Newsletter - Information on Retinal genes, proteins and diseases

　　TSC - TSC (TSC1/TSC2) variation db

　　TSC2 - Cardiff-Rotterdam Tuberous Sclerosis (TS) db (Tuberin; TSC2)

　　TGDB - Tumor gene db

　　VMD2 mutation - Human VMD2 mutation db

　　vWF mutation - Human von Willebrand factor (vWF) mutation db

　　WRN - Human WRN mutation db (Warner disease)

　　WT1 mutation - Human WT1 mutation db

　　X-ALD mutation - Human ABCD1 mutation db