人類基因突變及疾病相關數(shù)據(jù)庫

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 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