Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker GENOMICS_ENGLAND A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. 26968164

2016