人类基因突变及疾病相关数据库

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 OMIM
• List of mutation databases from IMT (Finland) 　
• ADB - Albinism db (Mutations in human genes causing albinism)
• 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.genome.ad.jp/">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