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 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: 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: 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 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 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: 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: 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: 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 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 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: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO