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: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		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 2 9 0.700 definitive 1.000 6 9 1999 2017
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 0.400 strong 1.000 27 2001 2020
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
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 0.360 None 1.000 6 1 2002 2017
CUI: C4302514
Disease: Distal renal tubular acidosis co-occurrent with sensorineural deafness
Distal renal tubular acidosis co-occurrent with sensorineural deafness 		phenotype 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 0.300 definitive 1.000 2 1999 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 strong 1.000 1 1999 1999
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.300 limited 0
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.300 limited 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.200 None 0.952 21 1999 2020
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 38 4 0.200 None 1.000 1 2017 2017
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.200 None 1.000 1 2017 2017
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 4 0.200 None 0
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 0.170 None 1.000 7 2000 2020
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.130 None 1.000 4 1 2011 2018
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.120 None 1.000 3 2 2018 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 1 1995 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 9 2 1995 2017
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C4016429
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		disease Finding 2 3 0.100 None 0 3
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 0.020 None 1.000 2 1 2018 2018
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 24 3 0.010 None 1.000 1 2000 2000
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.010 None 1.000 1 2019 2019
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2014 2014
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 9 3 0.010 None 1.000 1 2009 2009