Human Genes and Diseases

Database name	Description
DG-CST	Disease gene conserved sequence tags
HCAD	Human chromosome aberration database: Chromosomal breakpoints and affected genes
Homophila	Drosophila homologs of human disease genes to
OMIA	Online Mendelian inheritance in animals: A catalog of animal genetic and genomic disorders
OMIM	Online Mendelian inheritance in man: A catalog of human genetic and genomic disorders
ORFDB	Collection of ORFs that are sold by Invitrogen
PathBase	European mutant mice histopathology database: images
PYM	Compilation of protein mutant data
SOURCE	Functional genomics resource for human, mouse and rat

Database name	Description
ALFRED	Allele frequencies and DNA polymorphisms
BayGenomics	Genes relevant to cardiovascular and pulmonary disease
CTGA	The catalogue for transmission genetics in Arabs
Cypriot national mutation database	Disease mutations in the Cypriot population
Database of Genomic Variants	Human genomic variants: frequency, segmental duplications and genome assembly gaps
dbQSNP	Quantification of SNP allele frequencies database
dbRIP	Human retrotransposon insertion polymorphism
dbSNP	Database of single nucleotide polymorphisms
FESD	Functional element SNPs database: SNPs located within promoters, UTRs, etc., of human genes
HGVS Databases	A compilation of human mutation databases
HGVbase	Human genome variation database: Curated human polymorphisms
HGMD	Human gene mutation database
IPD	Immuno polymorphism database
JSNP	Japanese SNP database
rSNP Guide	SNPs in regulatory gene regions
SNP Consortium database	SNP Consortium data
SNPeffect	Phenotypic effects of human coding SNPs
TopoSNP	Topographic database of non-synonymous SNPs
TPMD	Taiwan polymorphic microsatellite marker database

Database name	Description
Atlas of Genetics and Cytogenetics in Oncology and Haematology	Cancer related genes, chromosomal abnormalities in oncology and haematology, and cancer-prone diseases
Cancer Chromosomes	Cytogenetic, clinical, and reference information on cancer-related aberrations
CGED	Cancer gene expression database
COSMIC	Catalogue of somatic mutations in cancer: Sequence data, samples and publications
Germline p53 Mutations	Mutations in human tumor and cell line p53 gene
HPTAA	Human potential tumor-associated antigens
IARC TP53 Database	Human TP53 somatic and germline mutations
ITTACA	Integrated tumor transcriptome array and clinical data analysis
MTB	Mouse tumor biology database: Tumor types, genes, classification, incidence, pathology
OncoMine	Cancer microarray data by gene or cancer type
Oral Cancer Gene Database	Cellular and molecular data for genes involved in oral cancer
RB1 Gene Mutation DB	Mutations in the human retinoblastoma (RB1) gene
RTCGD	Mouse retroviral tagged cancer gene database
SNP500Cancer	Re-sequenced SNPs from 102 reference samples
SV40 Large T-Antigen Mutants	Mutations in SV40 large tumor antigen gene
Tumor Gene Family Databases	Cellular, molecular and biological data about genes involved in various cancers

Database name	Description
ALPSbase	Autoimmune lymphoproliferative syndrome database
AlzGene	Candidate genes for Alzheimer disease
Androgen Receptor Gene Mutations Database	Mutations in the androgen receptor gene
BTKbase	Mutation registry for X-linked agammaglobulinemia
CarpeDB	Comprehensive database on the genetics of epilepsy
CASRDB	Calcium-sensing receptor database: CASR mutations causing hypercalcemia and/or hyperparathyroidism
Cytokine Gene Polymorphism in Human Disease	Cytokine gene polymorphism literature database
Collagen Mutation Database	Human type I and type III collagen gene mutations
ERGDB	Estrogen responsive genes database
EyeSite	Families of proteins functioning in the eye
FUNPEP	Low-complexity peptides capable of forming amyloid plaque
GOLD.db	Genomics of lipid-associated disorders database
GRAP	Mutants of G-protein coupled receptors of family A
HaemB	Factor IX gene mutations, insertions and deletions
HbVar	Human hemoglobin variants and thalassemias
HAGR	Human ageing genomic resources: Genes related to ageing in humans and model organisms
Human p53/hprt, rodent lacI/lacZ databases	Mutations at the human p53 and hprt genes; rodent transgenic lacI and lacZ mutations
Human PAX2 Allelic Variant Database	Mutations in human PAX2 gene
Human PAX6 Allelic Variant Database	Mutations in human PAX6 gene
INFEVERS	Hereditary inflammatory disorder and familial mediterranean fever mutation data
KinMutBase	Disease-causing protein kinase mutations
Lowe Syndrome Mutation Database	Mutations causing Lowe oculocerebrorenal syndrome
NCL Mutation Database	Polymorphisms in neuronal ceroid lipofuscinoses genes
PAHdb	Mutations at the phenylalanine hydroxylase locus
PGDB	Prostate and prostatic diseases gene database
PHEXdb	PHEX mutations causing X-linked hypophosphatemia
PTCH1 Mutation Database	Mutations and SNPs found in PTCH1 gene
SCAdb	Spinocerebellar ataxia candidate gene database
SynDB	Synaptic protein database
T1Dbase	A resource for type 1 diabetes research
The Autism Chromosome Rearrangement Database	Curated collection of genomic features related to autism
The Lafora Database	Mutations and polymorphisms associated with Lafora progressive myoclonus epilepsy
T-REGs	A list of TGFbeta-responsive genes