SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
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: C4551850
Disease: Eyelid myoclonias
Eyelid myoclonias 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2017 2017
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		disease Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C4518639
Disease: Epilepsy of infancy with migrating focal seizures
Epilepsy of infancy with migrating focal seizures 		disease Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2019 2019
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 10 7 0.700 None 1.000 3 7 2005 2016
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.020 None 1.000 2 2013 2017
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2014 2014
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease Disease or Syndrome 11 76 0.100 None 0 1
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		phenotype Nervous System Diseases Finding 14 9 0.100 None 0 2
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		phenotype Finding 14 0.100 None 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		phenotype Finding 15 0.100 None 0
CUI: C1844906
Disease: Broad finger
Broad finger 		phenotype Finding 17 0.100 None 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		phenotype Finding 19 0.100 None 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype Finding 23 1 0.100 None 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype Finding 25 2 0.100 None 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 26 1 0.100 None 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 34 4 0.100 None 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger 		phenotype Finding 37 1 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 0.100 None 0