PhenCode: Citations
- PhenCode
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Giardine, B. et al. (2007) PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat. 28:554-562.
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- AD&FTDMD
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- Genetic data on PSEN1 and PSEN2: Cruts M, Van Broeckhoven C. Presenilin mutations in Alzheimer's disease. Human Mutation 11: 183-190, 1998
(PubMed ID: 9521418)
- Genetic data on APP, PSEN1 and PSEN2: Cruts M, Van Broeckhoven C. Molecular genetics of Alzheimer's disease. Annals of Medicine 30: 560-565, 1998
(PubMed ID: 9920359)
- Genetic data on MAPT: Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in in frontotemporal dementia and related tauopathies. Human Mutation 24: 277-295, 2004
(PubMed ID: 15365985)
- Genetic data on GRN: Gijselinck I, Van Broeckhoven C, Cruts M. Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Human Mutation (Epub DOI: 10.1002/humu.20785;
PubMed ID: 18543312)
- Functional data on APP mutations: Theuns J, Marjaux E, Vandenbulcke M, Van Laere K, Kumar-Singh S, Bormans G, Brouwers N, Van den Broeck M, Vennekens K, Corsmit E, Cruts M, De Strooper B, Van Broeckhoven C, Vandenberghe R. Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment. Human Mutation 27: 888-896, 2006
(PubMed ID: 16917905)
- ALPL
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- ARdb
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- BGMUT
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Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database. Human Mutation. 2004 Jan; 23(1):8-16.
PubMed ID: 14695527
- CA2base
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Piirilä H., Väliaho J., Vihinen M.
Immunodeficiency mutation databases (IDbases)
Hum. Mutat. 2006 Sep 26;27(12):1200-1208
- CASRdb
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Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE. Mutations of the
calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia,
neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hum Mutat. 2000 Oct;16(4):281-96. Review.
- CBS
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- CFMDB
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- CLCN7base
- Piirilä H., Väliaho J., Vihinen M.
Immunodeficiency mutation databases (IDbases)
Hum. Mutat. 2006 Sep 26;27(12):1200-1208
- dbPEX
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- dbRIP
- Wang J, Song L, Grover D, Azrak S, Batzer MA, Liang P. dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans.Hum Mutat 27(4):323-329, 2006;
PMID: 16511833
- F12base
- Piirilä H., Väliaho J., Vihinen M.
Immunodeficiency mutation databases (IDbases)
Hum. Mutat. 2006 Sep 26;27(12):1200-1208
- Fanconi
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- FHCDB
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Fung DC, Yu B, Littlejohn T, Trent RJ. An online locus-specific mutation
database for familial hypertrophic cardiomyopathy. Human Mutation 1999;
14:326-332
- Globin Gene Server
- Systematic documentation and analysis of human genetic variation using the microattribution approach, Nature Genetics, submitted
- HbVar
- Patrinos, G.P., B. Giardine, C. Riemer, W. Miller, D.H.K. Chui, N.P. Anagnou, H. Wajcman, and R.C. Hardison (2004)
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucl. Acids Res . 32 Database issue: D537-541.
- HIFD
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Szeverenyi I. et al. (2008) The Human Intermediate Filament Database:
comprehensive information on a gene family involved in many human diseases.
Hum. Mutat. 29:351-360.
- IARC TP53
- Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat. 2007 Jun;28(6):622-9.
The version of the database should be identified (R12, November 2007 is the latest).
- IDbases
- Piirilä H., Väliaho J., Vihinen M.
Immunodeficiency mutation databases (IDbases)
Hum. Mutat. 2006 Sep 26;27(12):1200-1208
- IPNMDB
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- ISTH SSC VWF
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- KinMutBase
- Ortutay C, Valiaho J, Stenberg K, Vihinen M.
KinMutBase: a registry of disease-causing mutations in protein kinase domains.
Hum Mutat. 2005 May;25(5):435-42.
- LMDp
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Aartsma-Rus et al. (2006). Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 34:135-144.
PMID: 16770791
- LQTSdb
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- MMR
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Woods MO, Williams P, Careen A, Edwards L, Bartlett S, McLaughlin JR,
Younghusband HB. A new variant database for mismatch repair genes associated
with Lynch syndrome. Hum Mutat. 2007 Jul;28(7):669-73.
PMID: 17347989
- OSTM1base
- Piirilä H., Väliaho J., Vihinen M.
Immunodeficiency mutation databases (IDbases)
Hum. Mutat. 2006 Sep 26;27(12):1200-1208
- PAHdb
- Scriver C.R., Hurtubise M., Konecki D., Phommarinh M., Prevost L., Erlandsen H., Stevens R., Waters P.J., Ryan S., McDonald D., Sarkissian C. PAHdb 2003: What a locus-specific knowledgebase can do. Human Mutation, 2003, vol. 21, No. 4, 333-344
- RettBASE
- Christodoulou J, Grimm A, Maher T, Bennetts B. RettBASE: The IRSA MECP2 Variation Database. A new mutation database in evolution. Human
Mutation 2003: 21 (5); 466 - 472.
- RISN
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Preising M, Lorenz B. (1998) IRPA scientific newsletter--a new website to
integrate data on hereditary retinal disorders. Ophthalm Genet 19: 213-214
- RPGR
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- SRD5A2
- Makridakis NM, di Salle E, Reichardt JK.
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
Pharmacogenetics. 2000 Jul;10(5):407-13.
PMID: 10898110
- X-ALD
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Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR,
Wanders RJ, Moser HW.
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database:
role in diagnosis and clinical correlations.
Hum Mutat. 2001 Dec;18(6):499-515. Review.
PMID: 11748843