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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Databases, Genetic

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Disease relevance of Databases, Genetic

  • Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids [1].
  • Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish population; symptoms include failure to thrive, growth retardation, muscle hypotonia and hepatosplenomegaly [2].
  • Hereditary non-polyposis colorectal cancer (HNPCC; OMIM 120435-6) is a cancer-susceptibility syndrome linked to inherited defects in human mismatch repair (MMR) genes [3].
  • Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects [4].
  • Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes [5].

Psychiatry related information on Databases, Genetic


High impact information on Databases, Genetic

  • Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans [7].
  • Studying 29 families with 3-M syndrome (OMIM 273750), an autosomal recessive condition characterized by severe pre- and postnatal growth retardation, we first mapped the underlying gene to chromosome 6p21.1 and then identified 25 distinct mutations in the gene cullin 7 (CUL7) [8].
  • Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry [9].
  • Most individuals affected with hereditary hemochromatosis are homozygous with respect to a missense mutation that disrupts the conformation of HFE, an atypical HLA class I molecule (ref. 1; OMIM 235200) [10].
  • Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals [11].

Chemical compound and disease context of Databases, Genetic


Biological context of Databases, Genetic


Anatomical context of Databases, Genetic


Associations of Databases, Genetic with chemical compounds


Gene context of Databases, Genetic

  • Hepcidin, a peptide hormone (HAMP; OMIM 606464), seems to act in the same regulatory pathway as HFE [10].
  • The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3) [31].
  • While a few cases of isolated ACTH deficiency have been reported (OMIM 201400), an inherited POMC defect has not been described so far [32].
  • Polycystic liver disease (PCLD, OMIM 174050) is a dominantly inherited condition characterized by the presence of multiple liver cysts of biliary epithelial origin [33].
  • Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability [34].

Analytical, diagnostic and therapeutic context of Databases, Genetic

  • Sequence analysis confirmed that, in the database genetic background, the presence of two single-nucleotide differences led to two truncated ORFs rather than the full-length FDH2 gene present in strain CEN.PK 113-7D [35].
  • Names of specific genes corresponding to the losses or gains on gene map loci were identified from OMIM (Online Mendelian Inheritance in Man) of the NCBI website,. The overexpressions of N-myc and EGFR as well as underexpressions of Rb and ARHI were detected by RT-PCR analysis [36].
  • One of these, succinate semialdehyde dehydrogenase (SSADH) deficiency (or gamma-hydroxybutyric aciduria; OMIM 271980; E.C., has recently been modeled via gene targeting in the mouse [37].


  1. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Strautnieks, S.S., Thompson, R.J., Gardiner, R.M., Chung, E. Nat. Genet. (1996) [Pubmed]
  2. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Torrents, D., Mykkänen, J., Pineda, M., Feliubadaló, L., Estévez, R., de Cid, R., Sanjurjo, P., Zorzano, A., Nunes, V., Huoponen, K., Reinikainen, A., Simell, O., Savontaus, M.L., Aula, P., Palacín, M. Nat. Genet. (1999) [Pubmed]
  3. Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. Shimodaira, H., Filosi, N., Shibata, H., Suzuki, T., Radice, P., Kanamaru, R., Friend, S.H., Kolodner, R.D., Ishioka, C. Nat. Genet. (1998) [Pubmed]
  4. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. McGregor, L., Makela, V., Darling, S.M., Vrontou, S., Chalepakis, G., Roberts, C., Smart, N., Rutland, P., Prescott, N., Hopkins, J., Bentley, E., Shaw, A., Roberts, E., Mueller, R., Jadeja, S., Philip, N., Nelson, J., Francannet, C., Perez-Aytes, A., Megarbane, A., Kerr, B., Wainwright, B., Woolf, A.S., Winter, R.M., Scambler, P.J. Nat. Genet. (2003) [Pubmed]
  5. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Hoffmann, K., Dreger, C.K., Olins, A.L., Olins, D.E., Shultz, L.D., Lucke, B., Karl, H., Kaps, R., Müller, D., Vayá, A., Aznar, J., Ware, R.E., Sotelo Cruz, N., Lindner, T.H., Herrmann, H., Reis, A., Sperling, K. Nat. Genet. (2002) [Pubmed]
  6. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. O'Driscoll, M., Ruiz-Perez, V.L., Woods, C.G., Jeggo, P.A., Goodship, J.A. Nat. Genet. (2003) [Pubmed]
  7. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Smith, F.J., Irvine, A.D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L.E., Zhao, Y., Liao, H., Evans, A.T., Goudie, D.R., Lewis-Jones, S., Arseculeratne, G., Munro, C.S., Sergeant, A., O'Regan, G., Bale, S.J., Compton, J.G., DiGiovanna, J.J., Presland, R.B., Fleckman, P., McLean, W.H. Nat. Genet. (2006) [Pubmed]
  8. Identification of mutations in CUL7 in 3-M syndrome. Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Uzielli, M.L., Dagoneau, N., Chemaitilly, W., Superti-Furga, A., Dos Santos, H., Mégarbané, A., Morin, G., Gillessen-Kaesbach, G., Hennekam, R., Van der Burgt, I., Black, G.C., Clayton, P.E., Read, A., Le Merrer, M., Scambler, P.J., Munnich, A., Pan, Z.Q., Winter, R., Cormier-Daire, V. Nat. Genet. (2005) [Pubmed]
  9. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Barbu, V., Danton, F., Thibaud, N., Le Merrer, M., Burglen, L., Bertrand, A.M., Netchine, I., Le Bouc, Y. Nat. Genet. (2005) [Pubmed]
  10. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nicolas, G., Viatte, L., Lou, D.Q., Bennoun, M., Beaumont, C., Kahn, A., Andrews, N.C., Vaulont, S. Nat. Genet. (2003) [Pubmed]
  11. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Roetto, A., Papanikolaou, G., Politou, M., Alberti, F., Girelli, D., Christakis, J., Loukopoulos, D., Camaschella, C. Nat. Genet. (2003) [Pubmed]
  12. Nephrogenic diabetes insipidus. Morello, J.P., Bichet, D.G. Annu. Rev. Physiol. (2001) [Pubmed]
  13. A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Feldman, G.J., Ward, D.E., Lajeunie-Renier, E., Saavedra, D., Robin, N.H., Proud, V., Robb, L.J., Der Kaloustian, V., Carey, J.C., Cohen, M.M., Cormier, V., Munnich, A., Zackai, E.H., Wilkie, A.O., Price, R.A., Muenke, M. Hum. Mol. Genet. (1997) [Pubmed]
  14. Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter. Havelaar, A.C., Mancini, G.M., Beerens, C.E., Souren, R.M., Verheijen, F.W. J. Biol. Chem. (1998) [Pubmed]
  15. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Pulkkinen, L., Bruckner-Tuderman, L., August, C., Uitto, J. Am. J. Pathol. (1998) [Pubmed]
  16. Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. Gupta, M., Jansen, E.E., Senephansiri, H., Jakobs, C., Snead, O.C., Grompe, M., Gibson, K.M. Mol. Ther. (2004) [Pubmed]
  17. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. De Fusco, M., Marconi, R., Silvestri, L., Atorino, L., Rampoldi, L., Morgante, L., Ballabio, A., Aridon, P., Casari, G. Nat. Genet. (2003) [Pubmed]
  18. Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice. Zeeuwen, P.L., van Vlijmen-Willems, I.M., Olthuis, D., Johansen, H.T., Hitomi, K., Hara-Nishimura, I., Powers, J.C., James, K.E., op den Camp, H.J., Lemmens, R., Schalkwijk, J. Hum. Mol. Genet. (2004) [Pubmed]
  19. The oligogenic properties of Bardet-Biedl syndrome. Katsanis, N. Hum. Mol. Genet. (2004) [Pubmed]
  20. Hereditary fructose intolerance. Ali, M., Rellos, P., Cox, T.M. J. Med. Genet. (1998) [Pubmed]
  21. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Gaide, O., Schneider, P. Nat. Med. (2003) [Pubmed]
  22. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Robertson, N.G., Resendes, B.L., Lin, J.S., Lee, C., Aster, J.C., Adams, J.C., Morton, C.C. Hum. Mol. Genet. (2001) [Pubmed]
  23. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Tiso, N., Stephan, D.A., Nava, A., Bagattin, A., Devaney, J.M., Stanchi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B., Muriago, M., Basso, C., Thiene, G., Danieli, G.A., Rampazzo, A. Hum. Mol. Genet. (2001) [Pubmed]
  24. A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk. Lundén, A., Marklund, S., Gustafsson, V., Andersson, L. Genome Res. (2002) [Pubmed]
  25. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. Hendig, D., Schulz, V., Eichgrün, J., Szliska, C., Götting, C., Kleesiek, K. J. Mol. Med. (2005) [Pubmed]
  26. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Tang, N.L., Ganapathy, V., Wu, X., Hui, J., Seth, P., Yuen, P.M., Wanders, R.J., Fok, T.F., Hjelm, N.M. Hum. Mol. Genet. (1999) [Pubmed]
  27. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Bizzi, A., Bugiani, M., Salomons, G.S., Hunneman, D.H., Moroni, I., Estienne, M., Danesi, U., Jakobs, C., Uziel, G. Ann. Neurol. (2002) [Pubmed]
  28. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. Klepper, J. Curr. Opin. Neurol. (2004) [Pubmed]
  29. The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial. Liet, J.M., Pelletier, V., Robinson, B.H., Laryea, M.D., Wendel, U., Morneau, S., Morin, C., Mitchell, G., Lacroix, J. J. Pediatr. (2003) [Pubmed]
  30. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Bittar, M., Happle, R., Grzeschik, K.H., Leveleki, L., Hertl, M., Bornholdt, D., König, A. Archives of dermatology. (2006) [Pubmed]
  31. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo, S., Schutte, B.C., Richardson, R.J., Bjork, B.C., Knight, A.S., Watanabe, Y., Howard, E., de Lima, R.L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D.M., Zackai, E.H., Lammer, E.J., Aylsworth, A.S., Ardinger, H.H., Lidral, A.C., Pober, B.R., Moreno, L., Arcos-Burgos, M., Valencia, C., Houdayer, C., Bahuau, M., Moretti-Ferreira, D., Richieri-Costa, A., Dixon, M.J., Murray, J.C. Nat. Genet. (2002) [Pubmed]
  32. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Krude, H., Biebermann, H., Luck, W., Horn, R., Brabant, G., Grüters, A. Nat. Genet. (1998) [Pubmed]
  33. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Drenth, J.P., te Morsche, R.H., Smink, R., Bonifacino, J.S., Jansen, J.B. Nat. Genet. (2003) [Pubmed]
  34. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein, E.H., DiGiovanna, J.J., Compton, J.G., Bale, S.J. Nat. Genet. (1998) [Pubmed]
  35. Functional analysis of structural genes for NAD(+)-dependent formate dehydrogenase in Saccharomyces cerevisiae. Overkamp, K.M., Kötter, P., van der Hoek, R., Schoondermark-Stolk, S., Luttik, M.A., van Dijken, J.P., Pronk, J.T. Yeast (2002) [Pubmed]
  36. Analysis of chromosome abnormalities by comparative genomic hybridization in malignant peripheral primitive neuroectodermal tumor of the ovary. Chow, S.N., Lin, M.C., Shen, J., Wang, S., Jong, Y.J., Chien, C.H. Gynecol. Oncol. (2004) [Pubmed]
  37. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. Gibson, K.M., Jakobs, C., Pearl, P.L., Snead, O.C. IUBMB Life (2005) [Pubmed]
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