Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0033377
Disease: Ptosis
Ptosis
0.120 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: C0033377
Disease: Ptosis
Ptosis
0.120 Biomarker BEFREE Cultures of alpha-smooth muscle actin-positive myofibroblasts that were established at the time of repair surgery for prolapse (n = 30; mean age, 56 +/- 14 years) were analyzed and compared for their expression of the endothelin-1 system and contractile properties to myofibroblasts from primiparous women. 15695982

2005

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0033377
Disease: Ptosis
Ptosis
0.120 Biomarker HPO