ANKRD1, ankyrin repeat domain 1, 27063

N. diseases: 65; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142354133
rs142354133
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C4551904
Disease:
Total Anomalous Pulmonary Venous Return 1 		0.700 GeneticVariation UNIPROT Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. 18273862 2008
dbSNP: rs397517251
rs397517251
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C0018816
Disease:
Heart Septal Defects 		0.010 GeneticVariation BEFREE The present study is the first to identify the p.S187F mutant of ANKRD1, which is associated with cardiac septal defects. 30659708 2019
dbSNP: rs776270017
rs776270017
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice. 22412900 2012
dbSNP: rs755661906
rs755661906
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE Three missense heterozygous ANKRD1 mutations (P105S, V107L, and M184I) were identified in 4 DCM patients. 19608030 2009