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: 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
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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.020 None 1.000 2 2013 2018
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		disease Disease or Syndrome 2 4 0.700 limited 1.000 2 4 2011 2013
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
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
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
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
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: 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: 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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		phenotype Finding 39 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		phenotype Finding 42 0.100 None 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Finding 37 0.100 None 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		phenotype Nervous System Diseases Sign or Symptom 60 12 0.100 None 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype Finding 76 2 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0