Mutated in human diseases

Articles

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• HOXA1
  6 October 2005

  This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.
  Pathology
  germline mutations in Bosley-Salih-Alorainy syndrome (BSAS) (MIM.601536) Athabaskan brainstem dysgenesis syndrome (MIM.601536)
  homozygous truncating mutations in HOXA1 result in phenotype including horizontal gaze abnormalities, deafness, (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• MCT8
  25 June 2005

  monocarboxylate transporter 8

• GJB2
  14 November 2003

  connexin-26

• IFT43
  8 November 2011

  IFT43 is a subunit of intraflagellar transport complex A (IFTA). IFTA is involved in retrograde ciliary transport along axonemal microtubules.
  Pathology
  germline mutations in cranioectodermal dysplasia-3 (CED3; MIM.614099).
  See also
  IFTs

• ERCC6
  20 April 2005

  Pathology
  Cockayne syndrome
  cerebrooculofacioskeletal syndrome (COFS syndrome) (MIM.214150)

• MSX1
  6 June 2005

  Pathology
  germline mutations in autosomal dominant hypodontia (MIM.106600) Witkop syndrome (tooth-and-nail syndrome) (MIM.189500) isolated cleft lip/palate (MIM.608874)
  See also
  MSXs MSX1 MSX2

• POMT2
  25 May 2005

  Pathology
  germline mutations in Walker-Warburg syndrome (WWS)

• TBX1
  20 June 2005

  See also
  DiGeorge syndrome
  22q11
  TBXs
  References
  Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A. Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions. Am J Hum Genet. 2007 Mar;80(3):510-7. PMID: #17273972#
  Baldini A. Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev. 2005 Jun;15(3):279-84. PMID: (...)

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