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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 None 1.000 1 2008 2008
CUI: C4552766
Disease: Miscarriage
Miscarriage
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.300 None 1.000 1 2008 2008
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.300 None 1.000 1 2008 2008
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 109 0.300 None 1.000 1 2008 2008
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
disease Disease or Syndrome 2 4 0.700 limited 1.000 2 4 2011 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.300 None 1.000 1 2013 2013
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 77 0.010 None 1.000 1 2013 2013
Congenital hypogonadotropic hypogonadism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 23 10 0.010 None 1.000 1 2013 2013
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.020 None 1.000 2 2013 2018
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.010 None 1.000 1 2019 2019
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2019 2019