Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		disease 0.700 strong 1.000 5 1 2001 2016
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.310 strong 1.000 2 0 2015 2016
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease 0.300 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		disease 0.120 None 1.000 2 0 2003 2013
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 1 0 2015 2015
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 1 0 2013 2013
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		phenotype 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype 0.100 None 0 0