UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
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.
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 2 0.700 strong 1.000 3 2 2003 2006
CUI: C1306162
Disease: Kidney replacement disorder
Kidney replacement disorder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
Hyperuricemic Nephropathy, Familial Juvenile 2
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 1 0.200 None 1.000 2 2005 2014
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
disease Disease or Syndrome 2 1 0.200 None 1.000 2 2005 2014
Renal Failure, Progressive, with Hypertension
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C1881236
Disease: Interstitial Disease
Interstitial Disease
disease Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
Medullary Cystic Kidney Disease Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 5 0.790 None 1.000 15 5 2002 2019
CUI: C1868139
Disease: Medullary cystic kidney disease 1
Medullary cystic kidney disease 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.070 None 0.857 7 2000 2015
CUI: C0271858
Disease: Tertiary hyperparathyroidism
Tertiary hyperparathyroidism
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C1408258
Disease: Kidney damage
Kidney damage
phenotype Finding 5 6 0.100 None 0 1
Hyperuricemic Nephropathy, Familial Juvenile 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 18 1.000 None 1.000 44 18 2001 2018
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
Multiple small medullary renal cysts
disease Disease or Syndrome 6 1 0.100 None 0
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
disease Disease or Syndrome 8 0.100 None 0
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.100 None 0.917 12 1999 2016
CUI: C4020705
Disease: Glomerulocystic kidney disease
Glomerulocystic kidney disease
disease Disease or Syndrome 11 2 0.060 None 1.000 6 1 2003 2014
CUI: C0004576
Disease: Babesiosis
Babesiosis
disease Infections; Animal Diseases Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts
phenotype Pathologic Function 12 0.100 None 0
Autosomal dominant tubulointerstitial kidney disease
disease Disease or Syndrome 13 3 0.100 None 1.000 25 3 2001 2019
CUI: C0221248
Disease: Tophus
Tophus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2007 2007
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 15 0.060 None 0.833 6 1994 2009
CUI: C0683357
Disease: Excessive drinking
Excessive drinking
phenotype Mental or Behavioral Dysfunction 15 1 0.010 None 1.000 1 2017 2017
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
phenotype Finding 17 1 0.100 None 0 1
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment
phenotype Diagnostic Procedure 17 0.100 None 0