ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		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
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		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
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 GeneticVariation disease BEFREE Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. 27633570 2016
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 CausalMutation disease CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 Biomarker disease GENOMICS_ENGLAND De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 GeneticVariation disease UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 GermlineCausalMutation disease ORPHANET De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		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
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 CausalMutation disease CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 Biomarker disease GENOMICS_ENGLAND A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 Biomarker disease GENOMICS_ENGLAND A chloroplast gene encoding a protein with one zinc finger. 2505231 1989
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 GeneticVariation disease CLINVAR
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 Biomarker disease CTD_human
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.720 Biomarker disease GENOMICS_ENGLAND