Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. 20137779

2010
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 18226555

2008
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. 17317784

2007
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. 12205105

2002
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373

2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928

2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937

1999
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437

2014
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961

2015
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Clinical and molecular characterization of a second case of 7p22.1 microduplication. 22495914

2012
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Alpha-cardiac actin mutations produce atrial septal defects. 17947298

2008
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect. 27139165

2016
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253

2007
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. 24461919

2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Rare ACTG1 variants in fetal microlissencephaly. 26188271

2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome. 27625340

2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016