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: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 3 0.480 strong 1.000 8 1 2000 2018
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None 1.000 1 2008 2008
CUI: C0006663
Disease: Calcinosis
Calcinosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.100 None 0
CUI: C0221232
Disease: Welts
Welts 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Sign or Symptom 53 0.030 None 0.667 3 2017 2019
CUI: C0018889
Disease: Helminthiasis
Helminthiasis 		disease Infections Disease or Syndrome 59 1 0.010 None 1.000 1 2005 2005
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 69 0.100 None 0
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 63 17 0.100 None 0
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		disease Cardiovascular Diseases Disease or Syndrome 63 1 0.100 None 0
CUI: C0476227
Disease: pricking of skin
pricking of skin 		phenotype Sign or Symptom 65 1 0.050 None 1.000 5 2004 2019
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C0017086
Disease: Gangrene
Gangrene 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.100 None 0
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33 0.020 None 1.000 2 2011 2019
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 80 9 0.100 None 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		disease Disease or Syndrome 85 26 0.010 None 1.000 1 2020 2020
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.010 None 1.000 1 2014 2014
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.010 None 1.000 1 2005 2005
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.100 None 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.110 None 1.000 2 4 2016 2018
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2003 2003
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		disease Disease or Syndrome 124 5 0.100 None 0
CUI: C0043144
Disease: Wheezing
Wheezing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.010 None 1.000 1 2019 2019