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: C0234259
Disease: Sensitive to smells
Sensitive to smells 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C0240940
Disease: Scalp pain
Scalp pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None < 0.001 1 2014 2014
CUI: C0271291
Disease: Corneal anesthesia
Corneal anesthesia 		phenotype Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C0238637
Disease: Anal pain
Anal pain 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom 1 0.100 None 0
CUI: C4553071
Disease: Anal Pain, CTCAE 5
Anal Pain, CTCAE 5 		phenotype Finding 1 0.100 None 0
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: C0037650
Disease: Somatoform Disorder
Somatoform Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2008 2008
CUI: C0234241
Disease: Indifference to pain
Indifference to pain 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 2 0.010 None 1.000 1 2008 2008
CUI: C3151229
Disease: FEBRILE SEIZURES, FAMILIAL, 3B
FEBRILE SEIZURES, FAMILIAL, 3B 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4012054
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4552061
Disease: Mandibular pain
Mandibular pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.100 None 0
CUI: C0037140
Disease: B Virus Infection
B Virus Infection 		disease Infections Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
CUI: C0853946
Disease: Pain worsened
Pain worsened 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2018 2018
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease Nervous System Diseases Disease or Syndrome 4 392 0.300 moderate 1.000 1 2013 2013
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		phenotype Finding 4 3 0.100 None 0 1
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: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.300 limited 1.000 1 2004 2004
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures 		phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C0151934
Disease: Hypogeusia
Hypogeusia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
CUI: C0236000
Disease: Jaw pain
Jaw pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Sign or Symptom 6 1 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: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis 		phenotype Pathologic Function 6 0.100 None 0
CUI: C4552662
Disease: Rhinorrhea, CTCAE
Rhinorrhea, CTCAE 		phenotype Finding 6 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: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.300 None 1.000 1 2010 2010