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.
HYPERALDOSTERONISM, FAMILIAL, TYPE IV
disease Disease or Syndrome 3 3 0.700 None 1.000 2 3 2015 2016
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
phenotype Finding 1 13 0.600 None 1.000 5 13 2003 2018
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.500 None 1.000 13 5 2003 2020
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 33 13 0.400 None 1.000 10 3 2003 2020
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.360 disputed 1.000 11 1999 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 2 2006 2018
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.300 None 1.000 2 2009 2019
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 88 0.300 None 1.000 2 2009 2019
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 2 2009 2019
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.300 None 1.000 2 2009 2019
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 154 0.300 None 1.000 2 2009 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.300 None 1.000 2 2009 2019
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 2 2009 2019
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
disease Disease or Syndrome 6 5 0.300 None 1.000 1 2003 2003
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 0.300 None 1.000 1 2019 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.300 None 1.000 1 2019 2019
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.300 None 1.000 1 2019 2019
CUI: C0013221
Disease: Drug toxicity
Drug toxicity
group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 1 2019 2019
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.300 None 1.000 1 2019 2019
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 1 2019 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.300 None 1.000 1 2019 2019
CUI: C0085578
Disease: Thalassemia Minor
Thalassemia Minor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2019 2019
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical
disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 13 3 0.300 None 0
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor
disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0