RELN, reelin, 5649

N. diseases: 178; N. variants: 52
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.
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 6 0.700 None 1.000 2 6 1993 2000
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
disease Disease or Syndrome 1 7 0.700 strong 1.000 1 7 2015 2015
CUI: C1838063
Disease: Focal sensory auditory seizure
Focal sensory auditory seizure
phenotype Nervous System Diseases Finding 3 0.100 None 0
Lissencephaly with cerebellar hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.040 None 1.000 4 2001 2015
CUI: C0234974
Disease: Simple Partial Seizures
Simple Partial Seizures
phenotype Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex
disease Anatomical Abnormality 4 0.100 None 0
CUI: C3889636
Disease: SPINOCEREBELLAR ATAXIA 37
SPINOCEREBELLAR ATAXIA 37
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4551957
Disease: Epilepsy, Familial Temporal Lobe 1
Epilepsy, Familial Temporal Lobe 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 7 17 0.310 None 1.000 1 2017 2017
Autosomal Dominant Lateral Temporal Lobe Epilepsy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 8 4 0.310 None 1.000 2 2015 2017
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement
phenotype Laboratory Procedure 16 25 0.100 None 1.000 1 1 2017 2017
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
disease Nervous System Diseases Disease or Syndrome 19 29 0.010 None 1.000 1 2015 2015
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: C0011574
Disease: Involutional Depression
Involutional Depression
disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2000 2000
CUI: C1571983
Disease: Involutional paraphrenia
Involutional paraphrenia
disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2000 2000
CUI: C1571984
Disease: Psychosis, Involutional
Psychosis, Involutional
disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2000 2000
CUI: C0393682
Disease: Epilepsy, Lateral Temporal
Epilepsy, Lateral Temporal
disease Nervous System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2015 2015
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype Finding 30 3 0.100 None 0
CUI: C0282126
Disease: Depression, Neurotic
Depression, Neurotic
disease Mental Disorders Mental or Behavioral Dysfunction 41 0.300 None 1.000 1 2004 2004
Complex partial seizure with impairment of consciousness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
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 2012 2012
CUI: C0086133
Disease: Depressive Syndrome
Depressive Syndrome
disease Mental Disorders Mental or Behavioral Dysfunction 45 3 0.300 None 1.000 1 2004 2004
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.010 None 1.000 1 2006 2006
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 5 2018 2018
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease Otorhinolaryngologic Diseases Disease or Syndrome 49 11 0.180 None 0.875 8 3 2009 2018
CUI: C0025193
Disease: Melancholia
Melancholia
disease Mental Disorders Mental or Behavioral Dysfunction 51 8 0.300 None 1.000 1 2004 2004