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: 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
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: 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: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.310 None 1.000 1 2007 2007
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C2959367
Disease: Nephronophthisis type 4
Nephronophthisis type 4
disease Disease or Syndrome 1 0.300 strong 0
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile
disease Disease or Syndrome 17 0.300 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment
phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.100 None 0
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.100 None 0
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
disease Disease or Syndrome 8 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 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