SEC61A1, SEC61 translocon subunit alpha 1, 29927

N. diseases: 30; N. variants: 3
Disease: Chronic Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.410 GeneticVariation group BEFREE Taken together, these findings provide a mechanism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease. 27392076 2016
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.410 Biomarker group GENOMICS_ENGLAND Taken together, these findings provide a mechanism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease. 27392076 2016
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.410 Biomarker group HPO