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: C0019270
Disease: Hernia
Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 1 2018 2018
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 6 3 0.100 None 0 1
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction 11 0.100 None 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.100 None 0
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		disease Cardiovascular Diseases Disease or Syndrome 7 14 0.800 None 1.000 28 14 2004 2017
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		disease Cardiovascular Diseases Disease or Syndrome 14 5 0.500 None 1.000 20 3 2005 2019
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 11 0.800 None 0.950 20 11 2004 2018
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.600 limited 1.000 19 2004 2018
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.800 None 1.000 19 9 2004 2018
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 25 0.700 None 1.000 12 25 1979 2014
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		disease Nervous System Diseases Disease or Syndrome 35 8 0.200 None 1.000 10 3 2012 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.360 limited 1.000 9 2 2004 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.570 None 1.000 9 2006 2020
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 28 0.400 None 1.000 9 21 1979 2014
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.070 None 1.000 7 2006 2020
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.060 None 1.000 6 2006 2012