Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2. 28496999

2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome. 27625340

2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. 28493397

2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Rare ACTG1 variants in fetal microlissencephaly. 26188271

2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Baraitser and Winter syndrome with growth hormone deficiency. 25624931

2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction. 19419963

2009
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly. 15194427

2004
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 13680526

2003
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Domain motions in actin. 9665849

1998
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Atomic structure of the actin:DNase I complex. 2395459

1990