Mutated in human diseases

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• 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, (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• CD36
  6 October 2003

  GP4, GP3B, GP IIIb

• GATA3
  24 May 2005

  GATA-3
  PO
  Definition: GATA3 is a zinc-finger transcription factor (ZFNs), which is expressed in various normal and neoplastic tissues.
  GATA3 is a transcription factor important in the differentiation of breast epithelia, urothelia, and subsets of T-lymphocytes.
  It has been suggested useful in the evaluation of mammary or urothelial origin or metastatic carcinomas. GATA3 is a useful marker in characterization not only mammary carcinomas and urothelial carcinoma but also for renal tumors (...)

• SMARCB1
  24 November 2003

  INI1, SNF5, INI1/SNF5

• SMARCA4
  11 August 2004

  BRG1; "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"; SNF2L4
  Definition: The protein encoded by SMARCA4 is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila.
  Members of this family have helicase and ATPase (...)

• PARK2
  16 December 2003

  parkin, PRKN

• LEFTYA
  24 July 2007

  Pathology
  germline mutations in heterotaxy (Left-Right axis malformations) with situs ambiguus and visceral isomerism left ventricle hypoplasia, complete atrioventricular canal defect with a common atrioventricular valve, left ventricular outflow-tract obstruction, inferior vena caval drainage to the left of the descending aorta, left-sided superior vena cava; left pulmonary isomerism (#10053005#)
  NB: Members of the transforming growth factor (TGF)-beta family of cell-signaling (...)

• FGFR1
  18 January 2005

  Pathology
  germ-line mutations of FGFR1
  in Pfeiffer syndrome (MIM.101600)
  in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
  in osteoglophonic dysplasia
  isolated trigonocephaly (MIM.190440)
  isolated trigonocephaly (MIM.190440)
  fusion proteins in cellular proliferations
  BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
  CEP110-FGFR1 by t(8;9)(p12;q33) in (...)

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