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: C0009765
Disease: Conjunctivitis, Acute Hemorrhagic
Conjunctivitis, Acute Hemorrhagic 		disease Infections; Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.540 None 0.750 4 2003 2020
CUI: C0558066
Disease: Intrusive thoughts
Intrusive thoughts 		disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2018 2018
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.320 None 1.000 2 1 2016 2019
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		phenotype Nervous System Diseases Finding 14 9 0.100 None 0
CUI: C3146252
Disease: Stage II Colorectal Cancer AJCC v7
Stage II Colorectal Cancer AJCC v7 		disease Neoplastic Process 32 0.010 None 1.000 1 2011 2011
CUI: C0677948
Disease: Stage II Colorectal Cancer
Stage II Colorectal Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2011 2011
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis 		disease Digestive System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2015 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.010 None 1.000 1 2016 2016
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C0085293
Disease: Hepatitis E
Hepatitis E 		disease Digestive System Diseases; Infections Disease or Syndrome 72 2 0.020 None 1.000 2 2017 2019
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None 1.000 1 2017 2017
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis 		disease Digestive System Diseases Disease or Syndrome 94 0.010 None 1.000 1 2007 2007
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 0
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 115 1 0.010 None 1.000 1 2001 2001
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 119 6 0.010 None 1.000 1 2019 2019
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.100 None 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.100 None 0
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.010 None 1.000 1 2002 2002
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0