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  Domain Name: EGF
Epidermal growth factor-like domain.

Total Mutations Found: 210
Total Disease Mutations Found: 84
This domain occurred 148 times on human genes (332 proteins).



  ALAGILLE SYNDROME 2
  AND LEUKOENCEPHALOPATHY
  AORTIC VALVE DISEASE 1
  CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT (CADASIL)
  CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
  CONTRACTURAL ARACHNODACTYLY, CONGENITAL
  CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
  DONNAI-BARROW SYNDROME
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  FACTOR X DEFICIENCY
  FH PORI
  HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
  HYPERCHOLESTEROLEMIA, FAMILIAL
  LEBER CONGENITAL AMAUROSIS 8 (LCA8)
  MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
  MARFAN SYNDROME
  MARFAN SYNDROME, AUTOSOMAL RECESSIVE
  MARFAN SYNDROME, CLASSIC
  MARFAN SYNDROME, MILD
  MARFAN SYNDROME, MILD VARIABLE
  MARFAN SYNDROME, NEONATAL
  MARFAN SYNDROME, SEVERE CLASSIC
  MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
  OSTEOARTHRITIS SUSCEPTIBILITY 2
  OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
  PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  RETINITIS PIGMENTOSA 12
  RETINITIS PIGMENTOSA 12 (RP12)
  SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECE
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for EGF







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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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