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

Genetic Heterogeneity

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Disease relevance of Genetic Heterogeneity


Psychiatry related information on Genetic Heterogeneity

  • These results point towards an etiological influence of TNFA alleles in narcolepsy and support previous findings suggesting genetic heterogeneity and differences in pathophysiological characteristics of HLA-DR2 positive and negative narcolepsy [6].

High impact information on Genetic Heterogeneity


Chemical compound and disease context of Genetic Heterogeneity


Biological context of Genetic Heterogeneity


Anatomical context of Genetic Heterogeneity


Associations of Genetic Heterogeneity with chemical compounds


Gene context of Genetic Heterogeneity

  • This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected [32].
  • Our results show that mutations in the gene for Cx30.3 can be causally involved in EKV and point to genetic heterogeneity of this disorder [33].
  • Genetic heterogeneity has been confirmed as an explanation for such failure, since causative mutations have been identified in the COL5A1, COL5A2, and tenascin X genes and since they have been inferred in the COL1A2 gene [34].
  • The identification of germline mutations in families with HNPCC is hampered by genetic heterogeneity and clinical variability [35].
  • The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers [36].

Analytical, diagnostic and therapeutic context of Genetic Heterogeneity


  1. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Gasser, T., Müller-Myhsok, B., Wszolek, Z.K., Oehlmann, R., Calne, D.B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P., Horstmann, R.D. Nat. Genet. (1998) [Pubmed]
  2. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C. Nat. Genet. (1993) [Pubmed]
  3. The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Patel, H., Hart, P.E., Warner, T.T., Houlston, R.S., Patton, M.A., Jeffery, S., Crosby, A.H. Am. J. Hum. Genet. (2001) [Pubmed]
  4. Genetic linkage heterogeneity in myotubular myopathy. Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J.J., Pelissier, J.F., Feingold, N., Junien, C., Mandel, J.L. Am. J. Hum. Genet. (1995) [Pubmed]
  5. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Disse-Nicodème, S., Achard, J.M., Desitter, I., Houot, A.M., Fournier, A., Corvol, P., Jeunemaitre, X. Am. J. Hum. Genet. (2000) [Pubmed]
  6. TNFA promoter polymorphisms and narcolepsy. Wieczorek, S., Gencik, M., Rujescu, D., Tonn, P., Giegling, I., Epplen, J.T., Dahmen, N. Tissue Antigens (2003) [Pubmed]
  7. Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects. Mickelson, J.R., Louis, C.F. Physiol. Rev. (1996) [Pubmed]
  8. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Jadeja, S., Smyth, I., Pitera, J.E., Taylor, M.S., van Haelst, M., Bentley, E., McGregor, L., Hopkins, J., Chalepakis, G., Philip, N., Perez Aytes, A., Watt, F.M., Darling, S.M., Jackson, I., Woolf, A.S., Scambler, P.J. Nat. Genet. (2005) [Pubmed]
  9. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Howe, J.R., Bair, J.L., Sayed, M.G., Anderson, M.E., Mitros, F.A., Petersen, G.M., Velculescu, V.E., Traverso, G., Vogelstein, B. Nat. Genet. (2001) [Pubmed]
  10. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Mavrogiannis, L.A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C.A., Sugayama, S.M., Salamanca, A., Wall, S.A., Morriss-Kay, G.M., Wilkie, A.O. Nat. Genet. (2001) [Pubmed]
  11. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Charlier, C., Singh, N.A., Ryan, S.G., Lewis, T.B., Reus, B.E., Leach, R.J., Leppert, M. Nat. Genet. (1998) [Pubmed]
  12. Carbohydrate metabolism in dystrophia myotonica. Cudworth, A.G., Walker, B.A. J. Med. Genet. (1975) [Pubmed]
  13. Clinical implications of mutation analysis in primary hyperoxaluria type 1. van Woerden, C.S., Groothoff, J.W., Wijburg, F.A., Annink, C., Wanders, R.J., Waterham, H.R. Kidney Int. (2004) [Pubmed]
  14. Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease. Jinno, Y., Akaboshi, I., Matsuda, I. Hum. Genet. (1984) [Pubmed]
  15. Evolution of hepatitis C virus genome in chronically infected patients receiving ribavirin monotherapy. Querenghi, F., Yu, Q., Billaud, G., Maertens, G., Trépo, C., Zoulim, F. J. Viral Hepat. (2001) [Pubmed]
  16. Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations. Wiley, J., Lynch, T., Lincoln, S., Skipper, L., Hulihan, M., Gosal, D., Bisceglio, G., Kachergus, J., Hardy, J., Farrer, M.J. Mov. Disord. (2004) [Pubmed]
  17. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Antignac, C., Arduy, C.H., Beckmann, J.S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.L., Kleinknecht, C., Broyer, M. Nat. Genet. (1993) [Pubmed]
  18. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Zerres, K., Mücher, G., Bachner, L., Deschennes, G., Eggermann, T., Kääriäinen, H., Knapp, M., Lennert, T., Misselwitz, J., von Mühlendahl, K.E. Nat. Genet. (1994) [Pubmed]
  19. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Strathdee, C.A., Duncan, A.M., Buchwald, M. Nat. Genet. (1992) [Pubmed]
  20. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L., Dryja, T.P. Nat. Genet. (1995) [Pubmed]
  21. Ulcerative colitis: a genetically heterogeneous disorder defined by genetic (HLA class II) and subclinical (antineutrophil cytoplasmic antibodies) markers. Yang, H., Rotter, J.I., Toyoda, H., Landers, C., Tyran, D., McElree, C.K., Targan, S.R. J. Clin. Invest. (1993) [Pubmed]
  22. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Bellus, G.A., Gaudenz, K., Zackai, E.H., Clarke, L.A., Szabo, J., Francomano, C.A., Muenke, M. Nat. Genet. (1996) [Pubmed]
  23. Alien antigens return to the fold. Parham, P. Immunol. Today (1989) [Pubmed]
  24. Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. Arveiler, B., de Saint-Basile, G., Fischer, A., Griscelli, C., Mandel, J.L. Am. J. Hum. Genet. (1990) [Pubmed]
  25. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Rave-Harel, N., Madgar, I., Goshen, R., Nissim-Rafinia, M., Ziadni, A., Rahat, A., Chiba, O., Kalman, Y.M., Brautbar, C., Levinson, D. Am. J. Hum. Genet. (1995) [Pubmed]
  26. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Paloneva, J., Manninen, T., Christman, G., Hovanes, K., Mandelin, J., Adolfsson, R., Bianchin, M., Bird, T., Miranda, R., Salmaggi, A., Tranebjaerg, L., Konttinen, Y., Peltonen, L. Am. J. Hum. Genet. (2002) [Pubmed]
  27. Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency. Uhlemann, E.R., TenPas, J.H., Lucky, A.W., Schulman, J.D., Mudd, S.H., Shulman, N.R. N. Engl. J. Med. (1976) [Pubmed]
  28. Human cytochrome P450 isoforms. Their genetic heterogeneity and induction by omeprazole. Farrell, G.C., Murray, M. Gastroenterology (1990) [Pubmed]
  29. Androgen insensitivity in man: evidence for genetic heterogeneity. Amrhein, J.A., Meyer, W.J., Jones, H.W., Migeon, C.J. Proc. Natl. Acad. Sci. U.S.A. (1976) [Pubmed]
  30. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. El-Shanti, H., Lidral, A.C., Jarrah, N., Druhan, L., Ajlouni, K. Am. J. Hum. Genet. (2000) [Pubmed]
  31. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Ramesh, V., McClatchey, A.I., Ramesh, N., Benoit, L.A., Berson, E.L., Shih, V.E., Gusella, J.F. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  32. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Vincent, A.L., Billingsley, G., Buys, Y., Levin, A.V., Priston, M., Trope, G., Williams-Lyn, D., Héon, E. Am. J. Hum. Genet. (2002) [Pubmed]
  33. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Macari, F., Landau, M., Cousin, P., Mevorah, B., Brenner, S., Panizzon, R., Schorderet, D.F., Hohl, D., Huber, M. Am. J. Hum. Genet. (2000) [Pubmed]
  34. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Schwarze, U., Atkinson, M., Hoffman, G.G., Greenspan, D.S., Byers, P.H. Am. J. Hum. Genet. (2000) [Pubmed]
  35. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Wagner, A., Barrows, A., Wijnen, J.T., van der Klift, H., Franken, P.F., Verkuijlen, P., Nakagawa, H., Geugien, M., Jaghmohan-Changur, S., Breukel, C., Meijers-Heijboer, H., Morreau, H., van Puijenbroek, M., Burn, J., Coronel, S., Kinarski, Y., Okimoto, R., Watson, P., Lynch, J.F., de la Chapelle, A., Lynch, H.T., Fodde, R. Am. J. Hum. Genet. (2003) [Pubmed]
  36. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Aksentijevich, I., Galon, J., Soares, M., Mansfield, E., Hull, K., Oh, H.H., Goldbach-Mansky, R., Dean, J., Athreya, B., Reginato, A.J., Henrickson, M., Pons-Estel, B., O'Shea, J.J., Kastner, D.L. Am. J. Hum. Genet. (2001) [Pubmed]
  37. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Guay-Woodford, L.M., Muecher, G., Hopkins, S.D., Avner, E.D., Germino, G.G., Guillot, A.P., Herrin, J., Holleman, R., Irons, D.A., Primack, W. Am. J. Hum. Genet. (1995) [Pubmed]
  38. Quasispecies heterogeneity within the E1/E2 region as a pretreatment variable during pegylated interferon therapy of chronic hepatitis C virus infection. Chambers, T.J., Fan, X., Droll, D.A., Hembrador, E., Slater, T., Nickells, M.W., Dustin, L.B., Dibisceglie, A.M. J. Virol. (2005) [Pubmed]
  39. Evidence of focal genetic microheterogeneity in glioblastoma multiforme by area-specific CGH on microdissected tumor cells. Jung, V., Romeike, B.F., Henn, W., Feiden, W., Moringlane, J.R., Zang, K.D., Urbschat, S. J. Neuropathol. Exp. Neurol. (1999) [Pubmed]
  40. Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. Ghadially, R., Williams, M.L., Hou, S.Y., Elias, P.M. J. Invest. Dermatol. (1992) [Pubmed]
  41. Multilocus sequence typing of methicillin-resistant Staphylococcus aureus from an area of low endemicity by real-time PCR. Berglund, C., Mölling, P., Sjöberg, L., Söderquist, B. J. Clin. Microbiol. (2005) [Pubmed]
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