[转载]人类基因和疾病

8. Human Genes and Diseases
8.1. General human genetics databases
DG-CST	Disease gene conserved sequence tags	http://143.225.208.11/cst3/
GenAtlas	Human genes, markers and phenotypes	http://www.genatlas.org/
Genetics Home Reference	A general guide on human hereditary diseases	http://ghr.nlm.nih.gov/
HAGR	Human ageing genomic resources: Genes related to ageing in humans and model organisms	http://genomics.senescence.info/
HCAD	Human chromosome aberration database: Chromosomal breakpoints and affected genes	http://www.pdg.cnb.uam.es/UniPub/HCAD/
HGMD	Human gene mutation database	Requires user registration
Human PAML Browser	Positive selection in human genes detected through genome comparison	http://mendel.gene.cwru.edu/adamslab/pbrowser.py
MSY Breakpoint Mapper	Sequence-tagged sites in the human Y chromosome	http://breakpointmapper.wi.mit.edu
MutDB	Predicted biochemical effects of human genetic variation: maping of SNPs on protein sequence and structure	http://mutdb.org/
OMIM	Online Mendelian inheritance in man: A catalog of human genetic and genomic disorders	http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
SNP2NMD	Human SNPs causing nonsense-mediated mRNA decay	http://variome.kobic.re.kr/SNP2NMD/
8.2. General polymorphism databases
ALFRED	Allele frequencies and DNA polymorphisms	http://alfred.med.yale.edu
CTGA	Database for genetic disorders in Arabs	http://www.cags.org.ae
Cypriot national mutation database	Disease mutations in the Cypriot population	http://www.goldenhelix.org/cypriot/
Cytokine Gene Poly-morphism Database	Cytokine gene polymorphism literature database	http://www.nanea.dk/cytokinesnps/
Database of Genomic Variants	Human genomic variants: frequency, segmental duplications and genome assembly gaps	http://projects.tcag.ca/variation/
dbQSNP	Quantification of SNP allele frequencies database	http://qsnp.gen.kyushu-u.ac.jp/
dbRIP	Human retrotransposon insertion polymorphism	http://falcon.roswellpark.org:9090/
dbSNP	Database of single nucleotide polymorphisms	http://www.ncbi.nlm.nih.gov/SNP/
D-HaploDB	Definitive haplotype database	http://orca.gen.kyushu-u.ac.jp
FESD	Functional Element SNPs Database: SNPs located within promoters, UTRs, etc., of human genes	http://sysbio.kribb.re.kr/FESD/
FINDBase	Frequencies of INherited Disorders	http://www.findbase.org
F-SNP	Functional effects of various human SNPs	http://compbio.cs.queensu.ca/F-SNP/
HapMap Project	A haplotype map of the human genome with patterns of DNA sequence variation	http://snp.cshl.org
HGVbase	Human genome variation database: Curated human polymorphisms	http://hgvbase.cgb.ki.se
HGVS Databases	A compilation of human mutation databases	http://www.hgvs.org/
JSNP	Japanese SNP database	http://snp.ims.u-tokyo.ac.jp/
PhenomicDB	Comparison of phenotypes of orthologous genes in human and model organisms	http://www.phenomicdb.de
PolyDoms	Human coding SNPs mapped onto protein domains	http://polydoms.cchmc.org
Polymorphix	Database of sequence polymorphisms	http://pbil.univ-lyon1.fr/polymorphix/query.php
Protein Mutant DB	Compilation of protein mutant data	http://pmd.ddbj.nig.ac.jp/
SNAP	An integrated SNP Annotation Platform	http://platform.humgen.au.dk/
SNP@Ethnos	Human SNPs and genes that contain human ethnic variation	http://bioportal.kobic.re.kr/SNPatETHNIC/
SNPeffect & PupaSuite	Phenotypic effects of human coding SNPs	http://snpeffect.vib.be/
TopoSNP	Topographic database of non-synonymous SNPs	http://gila.bioengr.uic.edu/snp/toposnp
TPMD	Taiwan polymorphic microsatellite marker database	http://tpmd.nhri.org.tw
8.3. Cancer gene databases
Atlas of Genetics and Cytogenetics in Onco-logy and Haematology	Cancer related genes, chromosomal abnormalities in oncology and haematology, and cancer-prone diseases	http://atlasgeneticsoncology.org/
Cancer Chromosomes	Cytogenetic, clinical, and reference information on cancer-related aberrations	http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=cancerchromosomes
CancerGenes	Gene selection resource for cancer genome projects	http://cbio.mskcc.org/cancergenes
CanGEM	Gene copy number changes in cancer	http://www.cangem.org/
CGED	Cancer Gene Expression Database	http://lifesciencedb.jp/cged/
COSMIC	Catalogue Of Somatic Mutations In Cancer: Sequence data, samples and publications	http://www.sanger.ac.uk/perl/CGP/cosmic
Database of Germline p53 Mutations	Mutations in human tumor and cell line p53 gene	http://www.lf2.cuni.cz/projects/germline_mut_p53.htm
EHCO	Encyclopedia of hepatocellular carcinoma genes online	http://ehco.iis.sinica.edu.tw
HPTAA	Human potential tumor-associated antigens	http://www.bioinfo.org.cn/hptaa/
Human p53, human hprt, rodent lacI and rodent lacZ databases	Mutations at the human p53 and hprt genes; rodent transgenic lacI and lacZ mutations	http://www.ibiblio.org/dnam/mainpage.html
IARC TP53 Database	Human TP53 somatic and germline mutations	http://www-p53.iarc.fr/index.html
ITTACA	Integrated tumor transcriptome array and clinical data analysis	http://bioinfo.curie.fr/ittaca
MethyCancer	Links between DNA methylation levels and cancer	http://methycancer.genomics.org.cn
OncoDB.HCC	Oncogenomic database of hepatocellular carcinoma	http://oncodb.hcc.ibms.sinica.edu.tw
Oral Cancer Gene DB	Cellular and molecular data for genes involved in oral cancer	Incorporated into TGDBs, no. 155
PubMeth	Links between DNA methylation levels and cancer	http://matrix.ugent.be/pubmeth/
SNP500Cancer	Re-sequenced SNPs from 102 reference samples	http://snp500cancer.nci.nih.gov
SV40 Large T-Antigen Mutant Database	Mutations in SV40 large tumor antigen gene	http://supernova.bio.pitt.edu/pipaslab/
Tumor Associated Gene Database	Tumor-associated genes database	http://www.binfo.ncku.edu.tw/TAG/GeneDoc.php
Tumor Gene Family Databases (TGDBs)	Cellular, molecular and biological data about genes involved in various cancers	http://www.tumor-gene.org/tgdf.html
ALPSbase	Autoimmune lymphoproliferative syndrome database	http://research.nhgri.nih.gov/ALPS/
8.4. Gene-, system- or disease-specific databases
AlzGene	Candidate genes for Alzheimer disease	http://www.alzgene.org
Androgen Receptor Gene Mutations DB	Mutations in the androgen receptor gene	http://www.mcgill.ca/androgendb/
AngioDB	Database of angiogenesis and angiogenesis-related molecules	http://angiodb.snu.ac.kr/
BayGenomics	Publicly available mouse gene trap cell lines	Superseded by Gene Trap database, no. 827
BGED	Brain Gene Expression Database	http://genome.mc.pref.osaka.jp/BGED/
BTKbase	Mutation registry for X-linked agammaglobulinemia	http://bioinf.uta.fi/BTKbase/
CarpeDB	Comprehensive database on the genetics of epilepsy	http://www.carpedb.ua.edu
CASRDB	Calcium-sensing receptor database: CASR mutations causing hypercalcemia and/or hyperparathyroidism	http://www.casrdb.mcgill.ca/
Collagen Mutation DB	Human type I and type III collagen gene mutations	http://www.le.ac.uk/genetics/collagen/
DENIZ	Beta-thalassemia allele frequencies in world populations	No longer maintained
EICO DB	Expression-based Imprint Candidate Organiser	http://fantom2.gsc.riken.jp/EICODB/
EpoDB	Genes expressed during human Erythropoiesis database	http://www.cbil.upenn.edu/EpoDB/
ERGDB	Estrogen Responsive Genes Database	http://sdmc.lit.org.sg/ergdb/cgi-bin/explore.pl
EyeSite	Families of proteins functioning in the eye	http://eyesite.cryst.bbk.ac.uk/
GOLD.db	Genomics Of Lipid-associated Disorders	http://gold.tugraz.at
HaemB	Factor IX gene mutations, insertions and deletions	http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html
HbVar	Human hemoglobin variants and thalassemias	http://globin.cse.psu.edu/globin/hbvar
HDBase	A website for Huntington's disease research	http://hdbase.org/
HemBase	Genes expressed in differentiating human erythroid cells	http://hembase.niddk.nih.gov/
HemoPDB	Hematopoietic Promoter Database	http://bioinformatics.med.ohio-state.edu/HemoPDB
HORDE	Human Olfactory Receptor Data Exploratorium	http://bioinfo.weizmann.ac.il/HORDE/
HOX-PRO	Homeobox genes database	http://www.iephb.nw.ru/labs/lab38/spirov/hox_pro/hox-pro00.html
HPMR	Human plasma membrane receptome: sequences, literature, and expression data	http://receptome.stanford.edu/
Human PAX2 Allelic Variant Database	Mutations in human PAX2 gene	http://pax2.hgu.mrc.ac.uk/
Human PAX6 Allelic Variant Database	Mutations in human PAX6 gene	http://pax6.hgu.mrc.ac.uk/
IL2Rgbase	X-linked severe combined immunodeficiency mutation database	http://research.nhgri.nih.gov/scid/
Imprinted Gene Catalogue	Imprinted genes and parent-of-origin effects in animals	http://igc.otago.ac.nz/home.html
INFEVERS	Hereditary inflammatory disorder and familial mediterranean fever mutation data	http://fmf.igh.cnrs.fr/infevers
KBERG	KnowledgeBase for Estrogen Responsive Genes	http://research.i2r.a-star.edu.sg/kberg
KinMutBase	Disease-causing protein kinase mutations	http://www.uta.fi/imt/bioinfo/KinMutBase/
Lowe Syndrome Mutation Database	Mutations causing Lowe oculocerebrorenal syndrome	http://research.nhgri.nih.gov/lowe/
NCL Resource	Polymorphisms in neuronal ceroid lipofuscinoses genes	http://www.ucl.ac.uk/ncl/
NEIbank	EyeSAGE, EyeBrowse and Eye Disease Gene databases	http://neibank.nei.nih.gov
PAHdb	Mutations at the phenylalanine hydroxylase locus	http://www.pahdb.mcgill.ca
PGDB	Prostate and prostatic diseases gene database	http://www.ucsf.edu/pgdb/
PHEXdb	PHEX mutations causing X-linked hypophosphatemia	http://www.phexdb.mcgill.ca
Prostate Expression DB	Prostate expression database: ESTs from prostate tissue and cell type-specific cDNA libraries	http://www.pedb.org/
PTCH1 Mutation DB	Mutations and SNPs found in PTCH1 gene	http://www.cybergene.se/cgi-bin/w3-msql/ptchbase/index.html
RB1 Gene Mutation DB	Mutations in the human retinoblastoma (RB1) gene	http://www.verandi.de/joomla/
SCAdb	Spinocerebellar ataxia candidate gene database	http://ymbc.ym.edu.tw/sca_ensembl/
SynDB	Synapse protein database	http://syndb.cbi.pku.edu.cn
T1Dbase	A resource for type 1 diabetes research	http://t1dbase.org
The Autism Chromoso-me Rearrangement DB	Curated collection of genomic features related to autism	http://projects.tcag.ca/autism
The Lafora Database	The Lafora progressive myoclonus epilepsy mutation and polymorphism database	http://projects.tcag.ca/lafora/
T-REGs	A list of TGFbeta-responsive genes	No longer maintained

 

本文引用地址：http://blog.sciencenet.cn/blog-748683-886130.html  此文来自科学网潘兴亮博客，转载请注明出处。