Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 GeneticVariation disease BEFREE The identification of the p.Leu171Arg GIRK2 mutation potentially expands the Keppen-Lubinsky syndrome phenotype to include severe dystonia and ballismus. 29852244 2018
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 GeneticVariation disease UNIPROT Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also be a candidate gene for other lipodystrophies. 25620207 2015
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 GermlineCausalMutation disease ORPHANET Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also be a candidate gene for other lipodystrophies. 25620207 2015
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 Biomarker disease BEFREE Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also be a candidate gene for other lipodystrophies. 25620207 2015
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also be a candidate gene for other lipodystrophies. 25620207 2015
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also be a candidate gene for other lipodystrophies. 25620207 2015
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 Biomarker disease CTD_human
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 CausalMutation disease CLINVAR
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 GeneticVariation disease CLINVAR
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.410 Biomarker disease PSYGENET Studies continue to reveal other genes in which variants affect the risk of alcoholism or related traits, including GABRA2, CHRM2, KCNJ6 and AUTS2. 23712313 2013
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.410 GeneticVariation disease GWASDB Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6. 22554406 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.410 GeneticVariation disease GWASCAT Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6. 22554406 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.410 Biomarker disease PSYGENET Therefore, we sought to examine the role of KCNJ6 polymorphisms in adult alcohol dependence and stress-related alcohol abuse in adolescents. 21307845 2011
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.410 GeneticVariation disease BEFREE Therefore, we sought to examine the role of KCNJ6 polymorphisms in adult alcohol dependence and stress-related alcohol abuse in adolescents. 21307845 2011
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice. 22308328 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice. 22308328 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease BEFREE G protein-activated K+ channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing. 20943350 2011
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET G protein-activated K+ channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing. 20943350 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease BEFREE G protein-activated K+ channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing. 20943350 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET G protein-activated K+ channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing. 20943350 2011
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype CTD_human Coenzyme Q10 inhibits mitochondrial complex-1 down-regulation and nuclear factor-kappa B activation. 15256069 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE Thus, the KCNJ6 gene seems to play an important role in seizure control. 10686544 2000
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019