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: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 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 0.300 moderate 1.000 1 2019 2019
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.010 None 1.000 1 2005 2005
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.020 None 1.000 2 1998 2002
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections
group Infections Disease or Syndrome 237 12 0.020 None 1.000 2 2018 2019
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: 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: 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: 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: C0017160
Disease: Gastroenteritis
Gastroenteritis
disease Digestive System Diseases Disease or Syndrome 94 0.010 None 1.000 1 2007 2007
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None 1.000 1 2009 2009
CUI: C0019159
Disease: Hepatitis A
Hepatitis A
disease Digestive System Diseases; Infections Disease or Syndrome 451 27 0.010 None 1.000 1 2019 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2019 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2007 2007
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: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2018 2018
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None 1.000 1 2017 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2014 2014
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis
disease Digestive System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2015 2015
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None 1.000 1 2017 2017