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: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 38 0.680 1.000 19 37 1993 2017
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 8 0.320 1.000 4 3 2007 2015
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 1 0.310 1.000 2 2004 2012
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 0.300 strong 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.300 1 2007 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.300 1 2007 2007
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 98 38 0.110 1.000 2 1 2009 2018
Abnormal urinary amino-acid findings
phenotype Finding 47 0.100 0
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 29 0.100 0
CUI: C4280679
Disease: Increased calcium level in kidney
Increased calcium level in kidney
phenotype Finding 36 0.100 0
CUI: C4280806
Disease: Calcium oxalate kidney stones
Calcium oxalate kidney stones
phenotype Anatomical Abnormality 9 0.100 0
CUI: C0018965
Disease: Hematuria
Hematuria
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 50 2 0.100 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Disease or Syndrome 85 3 0.100 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
group Disease or Syndrome 51 0.100 0
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 137 0.100 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 58 0.100 0
CUI: C4476526
Disease: High urine occult blood
High urine occult blood
phenotype Finding 41 0.100 0
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 15 166 0.010 1.000 1 1 2004 2004
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 24 0.010 1.000 1 2009 2009
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.010 1.000 1 2015 2015
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 62 34 0.010 1.000 1 2009 2009