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: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.210 None 1.000 2 2012 2018
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.010 None 1.000 1 2012 2012
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.010 None 1.000 1 2018 2018
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 163 14 0.010 None 1.000 1 2012 2012
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2014 2014
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2013 2013
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.010 None 1.000 1 2010 2010
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 1 2018 2018
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 0.010 None 1.000 1 2018 2018
Infection by Cryptococcus neoformans
disease Infections Disease or Syndrome 167 1 0.010 None 1.000 1 2001 2001
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.010 None 1.000 1 2018 2018
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 324 18 0.010 None 1.000 1 2001 2001
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 0
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 18 0.500 strong 1.000 20 1 2002 2019
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 1.000 11 1 2006 2019
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 2 0.100 None 0 2
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 13 0.770 None 1.000 12 10 1999 2018