rs104894250, KCNJ1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bartter syndrome, antenatal , type 2
CUI: C1855849
Disease: Bartter syndrome, antenatal , type 2
0.800 GeneticVariation UNIPROT A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. 9727001 1998
Bartter syndrome, antenatal , type 2
CUI: C1855849
Disease: Bartter syndrome, antenatal , type 2
0.800 GeneticVariation UNIPROT Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. 9002665 1997
Bartter syndrome, antenatal , type 2
CUI: C1855849
Disease: Bartter syndrome, antenatal , type 2
0.800 GeneticVariation UNIPROT Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 8841184 1996
Bartter syndrome, antenatal , type 2
CUI: C1855849
Disease: Bartter syndrome, antenatal , type 2
0.800 CausalMutation CLINVAR