rs886037834, PKD1L1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HETEROTAXY, VISCERAL, 8, AUTOSOMAL
CUI: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
0.800 GeneticVariation UNIPROT Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
HETEROTAXY, VISCERAL, 8, AUTOSOMAL
CUI: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
0.800 CausalMutation CLINVAR
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
0.710 GeneticVariation BEFREE In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. 27616478 2016
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
0.710 GeneticVariation CLINVAR In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. 27616478 2016
Congenitally corrected transposition of the great arteries with ventricular septal defect
CUI: C4023272
Disease: Congenitally corrected transposition of the great arteries with ventricular septal defect
0.700 GeneticVariation CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
Congenital atresia of pulmonary artery
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
0.700 GeneticVariation CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
Paroxysmal atrial fibrillation
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
0.700 GeneticVariation CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.010 GeneticVariation BEFREE In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. 27616478 2016