Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.020 Biomarker disease BEFREE In conclusion, disruption of Kcnj16 induces a severe renal phenotype that, apart from hypokalemia, is the opposite of the phenotype seen in SeSAME/EAST syndrome. 21633011 2011
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.020 GeneticVariation disease BEFREE We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. 20651251 2010
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory 		0.010 Biomarker phenotype BEFREE SS <sup>Kcnj16-/-</sup> rats chronically treated with bicarbonate or the carbonic anhydrase inhibitor hydrochlorothiazide had partial restoration of arterial pH, but there was a further reduction in the ventilatory response to hypercapnic acidosis. 30605394 2019
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		0.010 AlteredExpression disease BEFREE In this study, by screening a GEO dataset containing 36 microdissected PDAC and matching normal pancreatic tissue samples, four differentially expressed K<sup>+</sup> channels (KCNJ5, KCNJ16, KCNN4 and KCNK1) were identified in PDAC. by immunohistochemical analysis of pancreatic tissue sections from Pdx1-Cre; LSL-Kras<sup>G12D/+</sup> mice (KC), Pdx1-Cre; LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup> mice (KPC) and human PDAC tissue microarrays, we found that Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4 was significantly elevated in pancreatic intraepithelial neoplasia (PanIN) and PDAC epithelia compared with untransformed pancreas tissues. 29050937 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 AlteredExpression disease BEFREE In this study, by screening a GEO dataset containing 36 microdissected PDAC and matching normal pancreatic tissue samples, four differentially expressed K<sup>+</sup> channels (KCNJ5, KCNJ16, KCNN4 and KCNK1) were identified in PDAC. by immunohistochemical analysis of pancreatic tissue sections from Pdx1-Cre; LSL-Kras<sup>G12D/+</sup> mice (KC), Pdx1-Cre; LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup> mice (KPC) and human PDAC tissue microarrays, we found that Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4 was significantly elevated in pancreatic intraepithelial neoplasia (PanIN) and PDAC epithelia compared with untransformed pancreas tissues. 29050937 2017
CUI: C1839730
Disease: Prieto X-linked mental retardation syndrome
Prieto X-linked mental retardation syndrome 		0.010 Biomarker disease BEFREE We report a three-generation pedigree with a novel ∼1 Mb deletion upstream of SOX9 and including KCNJ2 and KCNJ16, and ascertained for dominant transmission of PRS. 26663529 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. 26663529 2016