ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.410 GeneticVariation disease 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
CUI: C0033377
Disease: Ptosis
Ptosis 		0.410 Biomarker disease GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379 1996
CUI: C0033377
Disease: Ptosis
Ptosis 		0.410 Biomarker disease HPO