Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 GeneticVariation disease BEFREE KCNN3 was identified as also exhibiting mutations in ICC. 29408647 2018
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.310 Biomarker disease GENOMICS_ENGLAND A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension. 26658685 2016
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.300 Biomarker phenotype GENOMICS_ENGLAND A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension. 26658685 2016
CUI: C0042345
Disease: Varicosity
Varicosity 		0.300 Biomarker disease GENOMICS_ENGLAND A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension. 26658685 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 GeneticVariation disease BEFREE A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1. 11532529 2001
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.020 GeneticVariation disease BEFREE A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1. 11532529 2001
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		0.020 GeneticVariation disease BEFREE A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1. 11532529 2001
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		0.020 GeneticVariation disease BEFREE A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1. 11532529 2001
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		0.020 GeneticVariation disease BEFREE A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1. 11532529 2001
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 Biomarker disease PSYGENET A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1. 11532529 2001
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 GeneticVariation disease BEFREE A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. 15389773 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 GeneticVariation disease BEFREE A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. 15389773 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 Biomarker disease PSYGENET A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. 15389773 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease BEFREE A recent report has implicated a potassium channel-coding gene, KCNN3, which contains a polymorphic CAG repeat in its coding region, in schizophrenia and bipolar disorder. 11121173 2000
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 Biomarker disease BEFREE A recent report has implicated a potassium channel-coding gene, KCNN3, which contains a polymorphic CAG repeat in its coding region, in schizophrenia and bipolar disorder. 11121173 2000
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 GeneticVariation disease LHGDN An association of CAG repeats at the KCNN3 locus with symptom dimensions of schizophrenia. 12007452 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 GeneticVariation disease BEFREE An association of CAG repeats at the KCNN3 locus with symptom dimensions of schizophrenia. 12007452 2002
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.310 GeneticVariation disease BEFREE Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282 2019
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.510 GeneticVariation disease BEFREE Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282 2019
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282 2019
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.510 GermlineCausalMutation disease ORPHANET Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.500 GeneticVariation disease BEFREE Association between SNP rs13376333 and rs1131820 in the KCNN3 gene and atrial fibrillation in the Chinese Han population. 24978901 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 GeneticVariation disease BEFREE Association study of CAG repeats in the KCNN3 gene in Japanese patients with schizophrenia, schizoaffective disorder and bipolar disorder. 11311923 2001
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.370 Biomarker disease PSYGENET Association study of CAG repeats in the KCNN3 gene in Japanese patients with schizophrenia, schizoaffective disorder and bipolar disorder. 11311923 2001