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: C0042850
Disease: Vitamin B Deficiency
Vitamin B Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.200 None 1.000 1 2003 2003
CUI: C1504369
Disease: Allergic disorder of respiratory system
Allergic disorder of respiratory system 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2020 2020
CUI: C4072992
Disease: Retinal crystals
Retinal crystals 		phenotype Finding 1 0.100 None 0
CUI: C0948859
Disease: Oxalate crystalluria
Oxalate crystalluria 		disease Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C0268646
Disease: Isolated cystinuria
Isolated cystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C0856904
Disease: Allergy to fish
Allergy to fish 		phenotype Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0264995
Disease: Occlusion of artery (disorder)
Occlusion of artery (disorder) 		phenotype Pathologic Function 3 0.100 None 0
CUI: C4023591
Disease: Abnormality of circulating enzyme level
Abnormality of circulating enzyme level 		phenotype Finding 6 1 0.100 None 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C1298681
Disease: Oxalosis
Oxalosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2015 2015
CUI: C0853068
Disease: Decreased glomerular filtration rate
Decreased glomerular filtration rate 		phenotype Finding 11 0.100 None 0
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
Subacute Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 1997 1997
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 11 0.500 strong 0.964 28 6 1990 2019
CUI: C0013428
Disease: Dysuria
Dysuria 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 3 0.100 None 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 83 0.010 None 1.000 1 2018 2018
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 169 0.800 None 1.000 108 166 1973 2019
CUI: C0014394
Disease: Enuresis
Enuresis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 27 3 0.100 None 0
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.100 None 0
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 14 0.020 None 1.000 2 2002 2019
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 33 30 0.100 None 0
CUI: C2939094
Disease: Skin sensitisation
Skin sensitisation 		disease Disease or Syndrome 34 0.010 None 1.000 1 2007 2007
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 36 0.010 None 1.000 1 2017 2017