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: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		disease Disease or Syndrome 1 4 0.700 strong 1.000 6 4 2012 2018
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.700 None 1.000 3 3 2013 2018
CUI: C4273970
Disease: Familial pseudohyperkalemia
Familial pseudohyperkalemia 		disease Disease or Syndrome 1 0.030 None 1.000 3 2013 2016
CUI: C0234458
Disease: Dream disorder
Dream disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2013 2013
CUI: C0458118
Disease: Total body pain syndrome
Total body pain syndrome 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C0862953
Disease: Cholangiocarcinoma non-resectable
Cholangiocarcinoma non-resectable 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C1274408
Disease: Chronic plaque-like oral candidiasis
Chronic plaque-like oral candidiasis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C1306229
Disease: Dyschromatosis universalis
Dyschromatosis universalis 		disease Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 4 0.020 None 1.000 2 2017 2017
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 27 0.010 None 1.000 1 2002 2002
CUI: C1963899
Disease: Erosive gastroduodenitis
Erosive gastroduodenitis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C2919706
Disease: Idiopathic rapidly progressive glomerulonephritis
Idiopathic rapidly progressive glomerulonephritis 		disease Disease or Syndrome 2 0.010 None 1.000 1 1984 1984
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		disease Disease or Syndrome 3 4 0.700 None 1.000 2 2 2012 2018
CUI: C1565249
Disease: Mobility Limitation
Mobility Limitation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 3 0.010 None 1.000 1 2017 2017
CUI: C1859372
Disease: Calcification of Joints and Arteries
Calcification of Joints and Arteries 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2011 2011
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia 		phenotype Hemic and Lymphatic Diseases Finding 4 2 0.100 None 0
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 0.300 None 1.000 1 2012 2012
CUI: C0542141
Disease: Paralysis radial
Paralysis radial 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1306600
Disease: Radial nerve palsy
Radial nerve palsy 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		disease Congenital Abnormality 5 0.300 None 1.000 1 2012 2012
CUI: C0206186
Disease: Leukoplakia, Hairy
Leukoplakia, Hairy 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Infections; Stomatognathic Diseases Neoplastic Process 6 0.010 None 1.000 1 1996 1996
CUI: C3854629
Disease: Tendon thickening
Tendon thickening 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		phenotype Finding 6 1 0.100 None 0
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		disease Disease or Syndrome 7 1 0.020 None 1.000 2 1979 1985