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: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.010 None 1.000 1 2017 2017
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 32 0.300 None 1.000 2 2010 2010
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma 		disease Neoplasms Neoplastic Process 32 0.300 None 1.000 1 2013 2013
CUI: C0750935
Disease: Cerebral Astrocytoma
Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 32 0.300 None 1.000 1 2013 2013
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0 1
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		phenotype Mental or Behavioral Dysfunction 33 33 0.020 None 1.000 2 1 2012 2015
CUI: C1704230
Disease: Grade I Astrocytoma
Grade I Astrocytoma 		disease Neoplasms Neoplastic Process 35 0.300 None 1.000 1 2013 2013
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 37 6 0.100 None 0
CUI: C0014836
Disease: Escherichia coli Infections
Escherichia coli Infections 		group Infections Disease or Syndrome 38 0.200 None 1.000 1 2011 2011
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.010 None 1.000 1 2009 2009
CUI: C0280783
Disease: Juvenile Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 38 2 0.300 None 1.000 1 2013 2013
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		disease Neoplasms Neoplastic Process 38 4 0.010 None 1.000 1 2018 2018
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		disease Mental Disorders Disease or Syndrome 39 23 0.020 None 1.000 2 4 2015 2018
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0 1
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		phenotype Finding 41 2 0.100 None 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0 1
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 44 2 0.300 None 1.000 1 2013 2013
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction 		disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2020 2020
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma 		disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2013 2013
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 52 46 0.010 None 1.000 1 1995 1995
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 53 23 0.320 None 1.000 2 2 2013 2017
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.010 None 1.000 1 2018 2018
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 57 0.010 None 1.000 1 1994 1994
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.400 None 1.000 1 2004 2004