Bioinformatics- Species Specific Databases Links

HGMD - Human Gene Mutation db
SVD - EBI Sequence variation db
HGBASE - Human Genic Bi-Allelic Sequences db
GeneDis - Human genetic disease db
The SNP consortium
dbSNP - Human single nucleotide polymorphism (SNP) db
ALFRED - Allele Frequency Db
SeattleSNPs - UW-FHCRC Variation Discovery Resource
PicSNP - Catalog of non-synonymous SNP
List of mutation databases from OMIM
List of mutation databases from IMT (Finland)
ADAbase - Human adenosine deaminase (ADA) mutation db
ADB - Albinism db (Mutations in human genes causing albinism)
Albumin Web site
Alpha-glucosidase - Information about human acid alpha-glucosidase (GSD-II)
APC mutation
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 syndrome)
BTKbase - Human BTK mutation db (X-linked agammaglobulinemia)
CD3Ebase - Human CD3E mutation db
CD3Gbase - Human CD3G mutation db
CD40Lbase - Human CD40 ligand mutation db
COL1/3 mutation - Human Type I and III collagen mutation db
Connexin-deafness - Human connexins 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
G6PDdb - Human G6PD mutation db
Galt mutation - Human galactose-1-phosphate uridylyltransferase mutation db (Galactosemia)
GNAS1 - Human GNAS1 mutation db
GM2 gangliosidoses - Human Hexosaminidase A (HEXA), B (HEXB) and GM2A mutation db (Tay-Sachs/Sandhoff diseases)
HbVar - Hemoglobin variants db
Hereditary hearing loss homepage
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)
LHR - Human luteinizing hormone (LH) receptor mutation db
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
NF1 - NF1 Genetic Mutation Analysis Consortium web site
OCRL1 - OCRL1 mutation db (Lowe Syndrome)
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
PAX2 mutation - Human PAX2 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
Alsod.org - ALS/SOD1 genetic mutations db
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