Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 Biomarker disease GENOMICS_ENGLAND Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. 23341834 2012
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 GeneticVariation disease BEFREE Notably, variants in KCNJ1, which causes Bartter syndrome type 2, were strongly associated, potentially providing a novel target for intervention. 18443236 2008
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 Biomarker disease MGD Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter's syndrome. 12122007 2002
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 GeneticVariation disease 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
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 GeneticVariation disease 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
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 GeneticVariation disease UNIPROT Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 8841184 1996
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 GeneticVariation disease CLINVAR
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 Biomarker disease CTD_human
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1 		0.910 CausalMutation disease CLINVAR