Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2
0.700 Biomarker GENOMICS_ENGLAND De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2
0.700 Biomarker GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379

1996