GPHN, gephyrin, 10243

N. diseases: 104; N. variants: 49
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.700 strong 1.000 5 1 2001 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.310 strong 1.000 2 2015 2016
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0.300 None 1.000 1 2012 2012
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.300 None 1.000 1 2012 2012
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.300 None 1.000 1 2012 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.300 None 1.000 1 2012 2012
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 144 3 0.300 None 1.000 1 2012 2012
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.300 None 1.000 1 2012 2012
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.300 None 0
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.120 None 1.000 2 2003 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2015 2015
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2013 2013
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2019 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 2 2019 2019
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		phenotype Behavior and Behavior Mechanisms Injury or Poisoning 31 91 0.100 None 1.000 1 1 2019 2019
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 8 0.100 None 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype Pathologic Function 13 0.100 None 0