8. Human Genes and Diseases

The Nutrigenomics Information Portal

copied from Nucleic Acids Research, 2005, Vol. 33, Database issue (link directs to table of contents with many original papers on the below mentioned databases)
return to Database resources and links

No.^b

Database_name__

Full_name_and/or_description___________________

URL

8. Human Genes and Diseases

8.1. General Databases

661 DG-CST Disease gene conserved sequence tags http://143.225.208.11/cst3/

683 HCAD Human chromosome aberration database: chromosomal breakpoints and affected genes http://www.pdg.cnb.uam.es/UniPub/HCAD/

8 Homophila Drosophila homologs of human disease genes to http://superfly.ucsd.edu/homophila/

548 OMIA Online Mendelian inheritance in animals: a catalog of animal genetic and genomic disorders http://www.angis.org.au/omia

143 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

550 ORFDB Collection of ORFs that are sold by Invitrogen http://orf.invitrogen.com/

554 PathBase European mutant mice histopathology database: images http://www.pathbase.net/

146 PMD Compilation of protein mutant data http://pmd.ddbj.nig.ac.jp/

358 SOURCE Functional genomics resource for human, mouse and rat http://source.stanford.edu/

8.2. Human Mutations Databases

8.2.1. General polymorphism databases

119 ALFRED Allele frequencies and DNA polymorphisms http://alfred.med.yale.edu/

416 BayGenomics Genes relevant to cardiovascular and pulmonary disease http://baygenomics.ucsf.edu/

654 Cypriot national mutation database Disease mutations in the Cypriot population http://www.goldenhelix.org/cypriot/

655 Database of Genomic Variants Human genomic variants: frequency, segmental duplications and genome assembly gaps http://projects.tcag.ca/variation/

595 dbQSNP Quantification of SNP allele frequencies database http://qsnp.gen.kyushu-u.ac.jp/

127 dbSNP Database of single nucleotide polymorphisms http://www.ncbi.nlm.nih.gov/SNP/

669 FESD Functional element SNPs database: SNPs located within promoters, UTRs, etc., of human genes http://combio.kribb.re.kr/ksnp/resd/

496 HGVS Databases A compilation of human mutation databases http://www.hgvs.org/

131 HGVbase Human genome variation database: curated human polymorphisms http://hgvbase.cgb.ki.se/

133 HGMD Human gene mutation database http://www.hgmd.org/

367 IPD Immuno polymorphism database http://www.ebi.ac.uk/ipd

517 JSNP Japanese SNP database http://snp.ims.u-tokyo.ac.jp/

45 rSNP Guide SNPs in regulatory gene regions http://wwwmgs.bionet.nsc.ru/mgs/systems/rsnp/

344 SNP Consortium database SNP Consortium data http://snp.cshl.org/

626 SNPeffect Phenotypic effects of human coding SNPs http://snpeffect.vib.be/

590 TopoSNP Topographic database of non-synonymous SNPs http://gila.bioengr.uic.edu/snp/toposnp

755 TPMD Taiwan polymorphic microsatellite marker database http://tpmd.nhri.org.tw/

8.2.2. Cancer

122 Atlas of Genetics and Cytogenetics in Oncology and Haematology Cancer-related genes, chromosomal abnormalities in oncology and haematology, and cancer-prone diseases http://www.infobiogen.fr/services/chromcancer/

593 Cancer Chromosomes Cytogenetic, clinical and reference information on cancer-related aberrations http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=cancerchromosomes

431 CGED Cancer gene expression database http://love2.aist-nara.ac.jp/CGED

651 COSMIC Catalogue of somatic mutations in cancer: sequence data, samples and publications http://www.sanger.ac.uk/perl/CGP/cosmic

126 Germline p53 Mutations Mutations in human tumor and cell line p53 gene http://www.lf2.cuni.cz/win/projects/germline_mut_p53.htm

362 IARC TP53 Database Human TP53 somatic and germline mutations http://www.iarc.fr/p53/

152 MTB Mouse tumor biology database: tumor types, genes, classification, incidence, pathology http://tumor.informatics.jax.org/

709 OncoMine Cancer microarray data by gene or cancer type http://www.oncomine.org/

153 Oral Cancer Gene Database Cellular and molecular data for genes involved in oral cancer http://www.tumor-gene.org/Oral/oral.html

148 RB1 Gene Mutation DB Mutations in the human retinoblastoma (RB1) gene http://www.d-lohmann.de/Rb/

574 RTCGD Mouse retroviral tagged cancer gene database http://rtcgd.ncifcrf.gov/

579 SNP500Cancer Re-sequenced SNPs from 102 reference samples http://snp500cancer.nci.nih.gov

149 SV40 Large T-Antigen Mutants Mutations in SV40 large tumor antigen gene http://supernova.bio.pitt.edu/pipaslab/

155 Tumor Gene Family Databases Cellular, molecular and biological data about genes involved in various cancers http://www.tumor-gene.org/tgdf.html

8.2.3. Gene-, system- or disease-specific

768 ALPSbase Autoimmune lymphoproliferative syndrome database http://research.nhgri.nih.gov/alps/

120 Androgen Receptor Gene Mutations Database Mutations in the androgen receptor gene http://www.mcgill.ca/androgendb/

123 BTKbase Mutation registry for X-linked agammaglobulinemia http://bioinf.uta.fi/BTKbase/

594 CarpeDB Comprehensive database on the genetics of epilepsy http://www.carpedb.ua.edu/

124 CASRDB Calcium-sensing receptor database: CASR mutations causing hypercalcemia and/or hyperparathyroidism http://www.casrdb.mcgill.ca/

125 Cytokine Gene Polymorphism in Human Disease Cytokine gene polymorphism literature database http://bris.ac.uk/pathandmicro/services/GAI/cytokine4.htm

137 Collagen Mutation Database Human type I and type III collagen gene mutations http://www.le.ac.uk/genetics/collagen/

460 ERGDB Estrogen responsive genes database http://research.i2r.a-star.edu.sg/promoter/Ergdb-v11/

164 FUNPEP Low-complexity peptides capable of forming amyloid plaque http://www.cmbi.kun.nl/swift/FUNPEP/gergo/

363 GOLD.db Genomics of lipid-associated disorders database http://gold.tugraz.at

129 GRAP Mutants of G-protein coupled receptors of family A http://tinygrap.uit.no/GRAP/

130 HaemB Factor IX gene mutations, insertions and deletions http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html

491 HbVar Human hemoglobin variants and thalassemias http://globin.cse.psu.edu/globin/hbvar

680 HAGR Human ageing genomic resources: genes related to ageing in humans and model organisms http://genomics.senescence.info/

134 Human p53/hprt, rodent lacI/lacZ databases Mutations at the human p53 and hprt genes; rodent transgenic lacI and lacZ mutations http://www.ibiblio.org/dnam/mainpage.html

135 Human PAX2 Allelic Variant Database Mutations in human PAX2 gene http://pax2.hgu.mrc.ac.uk/

136 Human PAX6 Allelic Variant Database Mutations in human PAX6 gene http://pax6.hgu.mrc.ac.uk/

506 INFEVERS Hereditary inflammatory disorder and familial mediterranean fever mutation data http://fmf.igh.cnrs.fr/infevers

139 KinMutBase Disease-causing protein kinase mutations http://www.uta.fi/imt/bioinfo/KinMutBase/

523 Lowe Syndrome Mutation Database Mutations causing Lowe oculocerebrorenal syndrome http://research.nhgri.nih.gov/lowe/

142 NCL Mutation Database Polymorphisms in neuronal ceroid lipofuscinoses genes http://www.ucl.ac.uk/ncl/

144 PAHdb Mutations at the phenylalanine hydroxylase locus http://www.mcgill.ca/pahdb/

559 PGDB Prostate and prostatic diseases gene database http://www.ucsf.edu/pgdb/

145 PHEXdb PHEX mutations causing X-linked hypophosphatemia http://www.phexdb.mcgill.ca/

147 PTCH1 Mutation Database Mutations and SNPs found in PTCH1 gene http://www.cybergene.se/PTCH/ptchbase.html

SCAdb Spinocerebellar ataxia candidate gene database http://ymbc.ym.edu.tw/cgi-bin/SCA/list.cgi?display=map

632 T1Dbase A resource for type 1 diabetes research http://t1dbase.org/

752 The Autism Chromosome Rearrangement Database Curated collection of genomic features related to autism http://projects.tcag.ca/autism

753 The Lafora Database Mutations and polymorphisms associated with Lafora progressive myoclonus epilepsy http://projects.tcag.ca/lafora/

^a Each database is shown in the list only once, often in a category that was arbitrarily chosen among two or three appropriate ones. In the online version of this list at the NAR website (http://nar.oupjournals.org/), a database can be listed under two categories.

^b Accession number of the database in the online list; can be used to view the database summary, e.g. http://www3.oup.co.uk/nar/database/summary/1 shows the summary for DDBJ.