NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
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: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.020 None 1.000 2 2007 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2012 2012
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2014 2014
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0021359
Disease: Infertility
Infertility 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.100 None 0 1
CUI: C0032617
Disease: Polyuria
Polyuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.100 None 0
CUI: C0085602
Disease: Polydipsia
Polydipsia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		phenotype Finding 17 1 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.490 strong 1.000 9 5 2002 2019
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 17 0.900 None 1.000 8 17 2002 2016
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 2 7 0.700 None 1.000 5 7 2002 2012
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.530 strong 1.000 4 2002 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.030 None 1.000 3 2002 2005