Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
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

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO