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: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		disease Disease or Syndrome 1 3 0.720 None 1.000 2 3 2015 2018
CUI: C0426439
Disease: Narrow nostrils
Narrow nostrils 		phenotype Finding 3 0.100 None 0
CUI: C4025867
Disease: Abnormality of the forehead
Abnormality of the forehead 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		phenotype Finding 6 0.100 None 0
CUI: C0752196
Disease: Ballismus
Ballismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C4525496
Disease: Hamster Insulinoma
Hamster Insulinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 1995 1995
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 21 0.010 None 1.000 1 2002 2002
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype Finding 11 0.100 None 0
CUI: C0024902
Disease: Mastodynia
Mastodynia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 12 3 0.010 None 1.000 1 2015 2015
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		phenotype Finding 12 1 0.100 None 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		phenotype Finding 14 0.100 None 0
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease Finding 16 3 0.100 None 0
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype Finding 16 1 0.100 None 0
CUI: C4317152
Disease: Dimple chin
Dimple chin 		phenotype Anatomical Abnormality 16 2 0.100 None 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		phenotype Eye Diseases Finding 20 4 0.100 None 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 32 2 0.100 None 0
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 33 13 0.010 None 1.000 1 2011 2011
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0
CUI: C0457949
Disease: Chronic low back pain
Chronic low back pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 43 3 0.010 None 1.000 1 1 2019 2019
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype Finding 47 2 0.100 None 0
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 49 15 0.100 None 0
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		group Chemically-Induced Disorders Disease or Syndrome 50 180 0.100 None 1.000 1 96 2012 2012
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 5 0.100 None 0