GPHN, gephyrin, 10243

N. diseases: 104; N. variants: 49
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 GeneticVariation disease UNIPROT Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. 26613940 2015
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 Biomarker disease GENOMICS_ENGLAND Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. 23393157 2013
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 GeneticVariation disease UNIPROT A GPHN point mutation leading to molybdenum cofactor deficiency. 22040219 2011
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 GeneticVariation disease UNIPROT A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. 11095995 2001
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 CausalMutation disease CLINVAR
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 Biomarker disease CTD_human
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 GeneticVariation disease BEFREE We identified a de novo missense mutation (G375D) in the gephyrin gene (GPHN) in a patient with epileptic encephalopathy resembling Dravet syndrome. 26613940 2015
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		0.300 Biomarker disease CTD_human GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. 22253714 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.300 Biomarker disease CTD_human GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. 22253714 2012
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		0.300 Biomarker disease CTD_human GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. 22253714 2012
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		0.300 Biomarker disease CTD_human GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. 22253714 2012
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		0.300 Biomarker group CTD_human GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. 22253714 2012
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		0.300 Biomarker disease CTD_human GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. 22253714 2012
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.300 Biomarker disease CTD_human
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		0.120 GeneticVariation disease BEFREE These findings, together with previous reports of homozygous GPHN mutations in connection with autosomal recessive molybdenum cofactor deficiency, will aid in clinical genetic interpretation of the GPHN mutation spectrum. 23393157 2013
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		0.120 GeneticVariation disease BEFREE Mice deficient in gephyrin develop a hereditary molybdenum cofactor deficiency and a neurological phenotype that mimics startle disease (hyperekplexia). 12684523 2003
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE The proband's older sister with DD, seizures, and ASD has a 438 kb intragenic microdeletion of the GPHN gene in the chromosome 14q23.3 region (67,105,512-67,543,291) containing multiple exons, while the proband's older brother with DD, ASD, ID, and ADHD has both the 8q24.3 and the 14q23.3 deletions. 25866352 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. 23393157 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019