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.
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		disease Disease or Syndrome 13 3 0.100 None 1.000 25 3 2001 2019
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: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 4 5 2016 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 0.750 4 1994 2009
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 2 3 2016 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 2 2 2018 2019
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.020 None 1.000 2 2009 2013
CUI: C3280216
Disease: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 		disease Disease or Syndrome 2 1 0.200 None 1.000 2 2005 2014
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2017 2017
CUI: C0683357
Disease: Excessive drinking
Excessive drinking 		phenotype Mental or Behavioral Dysfunction 15 1 0.010 None 1.000 1 2017 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1881236
Disease: Interstitial Disease
Interstitial Disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2015 2015
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		phenotype Disease or Syndrome 61 11 0.010 None 1.000 1 2019 2019
CUI: C3845502
Disease: Myocardial infarction, stroke
Myocardial infarction, stroke 		disease Disease or Syndrome 46 3 0.010 None 1.000 1 2019 2019
CUI: C1408258
Disease: Kidney damage
Kidney damage 		phenotype Finding 5 6 0.100 None 0 1
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		phenotype Finding 17 1 0.100 None 0 1
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts 		disease Disease or Syndrome 8 0.100 None 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		phenotype Pathologic Function 12 0.100 None 0
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		disease Disease or Syndrome 6 1 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.020 None 1.000 2 2007 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.500 None 0.958 24 6 2006 2019