Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation BEFREE ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability. 23756437

2014