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: 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: 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: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.150 None 1.000 6 4 2001 2018
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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.020 None 0.500 2 2 2019 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.120 None 0.500 2 2 2019 2019
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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2014 2014
CUI: C0476227
Disease: pricking of skin
pricking of skin 		phenotype Sign or Symptom 65 1 0.050 None 1.000 5 2004 2019
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.050 None 1.000 5 2001 2017
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.050 None 1.000 5 2004 2010
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: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.030 None 1.000 3 2010 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 0.500 2 1994 2019
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.020 None 1.000 2 2017 2020
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2018 2019
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: C0043144
Disease: Wheezing
Wheezing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.010 None 1.000 1 2019 2019
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None 1.000 1 2008 2008
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.010 None 1.000 1 2010 2010
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: 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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2004 2004