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.
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C0234974
Disease: Simple Partial Seizures
Simple Partial Seizures 		phenotype Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		disease Hemic and Lymphatic Diseases Pathologic Function 61 1 0.100 None 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1838063
Disease: Focal sensory auditory seizure
Focal sensory auditory seizure 		phenotype Nervous System Diseases Finding 3 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		phenotype Finding 30 3 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.100 None 0
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex 		disease Anatomical Abnormality 4 0.100 None 0
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: 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
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.310 limited 1.000 1 2016 2016
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.300 None 1.000 1 2010 2010
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: C0011574
Disease: Involutional Depression
Involutional Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2000 2000
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.300 limited 1.000 1 2016 2016
CUI: C0011573
Disease: Endogenous depression
Endogenous depression 		disease Mental Disorders Mental or Behavioral Dysfunction 53 0.300 None 1.000 1 2004 2004
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.300 limited 1.000 1 2016 2016
CUI: C0282126
Disease: Depression, Neurotic
Depression, Neurotic 		disease Mental Disorders Mental or Behavioral Dysfunction 41 0.300 None 1.000 1 2004 2004
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.300 limited 1.000 1 2016 2016