Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 GeneticVariation disease BEFREE WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type). 29388391 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. 29788902 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 GeneticVariation disease BEFREE Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. 27633570 2016
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 CausalMutation disease CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 GeneticVariation disease UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 GermlineCausalMutation disease ORPHANET De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND 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 		0.720 CausalMutation disease CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND A chloroplast gene encoding a protein with one zinc finger. 2505231 1989
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 GeneticVariation disease CLINVAR
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease CTD_human
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.300 GermlineCausalMutation disease ORPHANET De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		0.010 GeneticVariation disease BEFREE WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type). 29388391 2018
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.010 GeneticVariation disease BEFREE WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type). 29388391 2018