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CHDGene:ENSG00000108061

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SHOC2

Syndromic associated CHDs overview

VSD (2, 7.4%)
Mitral valvar abnormality (8, 29.6%)
ASD (8, 29.6%)
Pulmonary valvar stenosis - congenital (9, 33.3%)

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External references for SHOC2

Known phenotypes for SHOC2

Non-syndromic

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Syndromic

  
 ASD edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:19684605 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Mutations in SHOC2 were detected in individuals with a consistent phenotype, previously termed Noonan-like syndrome with anagen hair (OMIM:607721).
  • Incidence:
  • Comments:
  • Studies: (1)
[ show ]
Add another study.


  
 Mitral valvar abnormality edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:19684605 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Mutations in SHOC2 were detected in individuals with a consistent phenotype, previously termed Noonan-like syndrome with anagen hair (OMIM:607721).
  • Incidence:
  • Comments:
  • Studies: (1)
[ show ]
Add another study.


  
 Pulmonary valvar stenosis - congenital edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:19684605 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Mutations in SHOC2 were detected in individuals with a consistent phenotype, previously termed Noonan-like syndrome with anagen hair (OMIM:607721).
  • Incidence:
  • Comments:
  • Studies: (1)
[ show ]
Add another study.


  
 VSD edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:19684605 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Mutations in SHOC2 were detected in individuals with a consistent phenotype, previously termed Noonan-like syndrome with anagen hair (OMIM:607721).
  • Incidence:
  • Comments:
  • Studies: (1)
[ show ]
Add another study.


Add another phenotype.

Protein interaction partners


Patients reports for SHOC2

Translocations

Region References OMIM Comments

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Mutations in SHOC2

Mutation (DNA) Mutation (peptide) CHD Reference Other features Inheritence Additional info.

Representation of protein SHOC2

Heart expression domain of SHOC2

No specified expression domain for SHOC2

Add a new domain where gene SHOC2 is expressed

Associated CHDs found by automated text mining

AGeneApart Method

Huge Navigator (Genopedia)

See complete results on Genopedia (including non CHD)

Heart defects
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