Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker 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
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker 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
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 GermlineCausalMutation ORPHANET De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker 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
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker GENOMICS_ENGLAND A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937

1999

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker GENOMICS_ENGLAND A chloroplast gene encoding a protein with one zinc finger. 2505231

1989

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker CTD_human

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
0.700 Biomarker 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
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
0.700 GermlineCausalMutation ORPHANET 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: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
0.700 GeneticVariation UNIPROT 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: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
0.700 Biomarker CTD_human

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Chemical and Drug Induced Liver Injury
0.500 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker CTD_human The study identified and characterized three of these proteins, namely peroxiredoxin-6, β-actin and collagen α-1 (VI) as potentially prospective biomarkers for early detection of lung cancer. 23692979

2013

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284

2012

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker CTD_human Discrimination of tumorigenic triazole conazoles from phenobarbital by transcriptional analyses of mouse liver gene expression. 19363144

2009

Entrez Id: 60
Gene Symbol: ACTB
ACTB
Sensorineural Hearing Loss (disorder)
0.400 Biomarker CTD_human 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: C0036341
Disease: Schizophrenia
Schizophrenia
0.390 Biomarker PSYGENET We first carried out a preliminary array screen of pooled RNA, and then used RT-PCR to quantify five mRNAs which the array identified as differentially expressed in schizophrenia (myelin basic protein [MBP], myelin-oligodendrocyte glycoprotein [MOG], β-actin [ACTB], thymosin β-10 [TB10], and superior cervical ganglion-10 [SCG10]). 22675524

2012

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.390 Biomarker CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942

2005

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome
0.360 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome
0.360 Biomarker GENOMICS_ENGLAND Our results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes. 22366783

2012

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.320 Biomarker CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066

2009