SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.010 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2016 2016
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2018 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2014 2014
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2010 2010
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.010 None 1.000 1 2018 2018
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 69 0.300 None 1.000 1 2010 2010
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 0.300 None 1.000 1 2010 2010
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 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 1 2019 2019
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.010 None 1.000 1 2018 2018
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.010 None 1.000 1 2018 2018
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2011 2011
CUI: C3899267
Disease: Encephalopathy of Prematurity
Encephalopathy of Prematurity 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.010 None 1.000 1 2015 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None < 0.001 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2016 2016
CUI: C0037036
Disease: Sialorrhea
Sialorrhea 		disease Stomatognathic Diseases Disease or Syndrome 32 1 0.100 None 0
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: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 None 1.000 11 2007 2020
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.090 None 1.000 9 2015 2019