ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs852426
rs852426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0038454
Disease:
Cerebrovascular accident 		0.010 GeneticVariation BEFREE ACTB rs852426 was significantly associated with alcohol consumption on stroke risk, and the expression of ACTB mRNA in IS who had a drinking habit was significantly down-regulated. 31327802 2020
dbSNP: rs886041268
rs886041268
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		0.010 GeneticVariation BEFREE The G48D and G48C mutations in the D-loop and the actin-myosin interface are the two causes of CFTD. 29338614 2019
dbSNP: rs2966449
rs2966449
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE The association of rs2966449 with DKD was also found in the populations older than 70 years, male, not smoking, not drinking, and with duration for T2DM over 20 years. 31396261 2019
dbSNP: rs852426
rs852426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE Furthermore, the association of rs852426 with DKD was observed in populations of male and females without smoking, drinking, and with duration for T2DM 10-20 years. 31396261 2019
dbSNP: rs2966449
rs2966449
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0011881
Disease:
Diabetic Nephropathy 		0.010 GeneticVariation BEFREE The association of rs2966449 with DKD was also found in the populations older than 70 years, male, not smoking, not drinking, and with duration for T2DM over 20 years. 31396261 2019
dbSNP: rs852426
rs852426
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0011881
Disease:
Diabetic Nephropathy 		0.010 GeneticVariation BEFREE The association of rs852426 with DKD sti</span>ll remained statistically significant after Bonferroni correction and particularly significant in the population older than 70 years rather than the 70 years or younger (<i>P</i> = 0.047 for heterogeneity test). 31396261 2019
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928 2013
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of a second case of 7p22.1 microduplication. 22495914 2012
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of a second case of 7p22.1 microduplication. 22495914 2012
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928 2013
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
dbSNP: rs1554329552
rs1554329552
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006