Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0033377
Disease: Ptosis
Ptosis 		0.410 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: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0033377
Disease: Ptosis
Ptosis 		0.410 Biomarker GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379

1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0033377
Disease: Ptosis
Ptosis 		0.410 Biomarker HPO