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  Domain Name: COG5576
Homeodomain-containing transcription factor [Transcription]
No pairwise interactions found for the domain COG5576

Total Mutations Found: 149
Total Disease Mutations Found: 90
This domain occurred 76 times on human genes (124 proteins).



  ANIRIDIA
  ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
  AXENFELD-RIEGER SYNDROME, TYPE 1
  CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR
  COLOBOMA OF OPTIC NERVE
  COLOBOMA, OCULAR, INCLUDED
  CONE-ROD DYSTROPHY 11 (CORD11)
  CONE-ROD DYSTROPHY 2
  CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
  CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
  FRONTONASAL DYSPLASIA 1
  FRONTONASAL DYSPLASIA 2
  HYDRANENCEPHALY WITH ABNORMAL GENITALIA
  IRIDOGONIODYSGENESIS, TYPE 2
  LANGER MESOMELIC DYSPLASIA
  LANGER MESOMELIC DYSPLASIA, INCLUDED
  LEBER CONGENITAL AMAUROSIS 7
  LERI-WEILL DYSCHONDROSTEOSIS
  LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED
  LISSENCEPHALY, X-LINKED, 2
  MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
  MICROPHTHALMIA, ISOLATED 3
  MICROPHTHALMIA, SYNDROMIC 11
  MICROPHTHALMIA, SYNDROMIC 5
  MIRROR-IMAGE POLYDACTYLY
  NAIL-PATELLA SYNDROME
  NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE
  NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
  OPTIC NERVE HYPOPLASIA, BILATERAL
  PARIETAL FORAMINA 2
  PITUITARY HORMONE DEFICIENCY, COMBINED, 2
  PITUITARY HORMONE DEFICIENCY, COMBINED, 3
  PITUITARY HORMONE DEFICIENCY, COMBINED, 4
  RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION
  RING DERMOID OF CORNEA
  SHORT STATURE, IDIOPATHIC, X-LINKED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG5576







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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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