NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
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: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		disease Disease or Syndrome 2 5 0.700 None 1.000 5 5 2003 2016
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 0.540 None 1.000 4 2008 2013
CUI: C4021086
Disease: Abnormal biliary tract morphology
Abnormal biliary tract morphology 		phenotype Anatomical Abnormality 3 1 0.100 None 0
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 4 5 0.700 None 1.000 2 5 2003 2008
CUI: C1846980
Disease: Senior-Loken Syndrome 3
Senior-Loken Syndrome 3 		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 4 0.010 None 1.000 1 2002 2002
CUI: C4022605
Disease: Abnormal liver parenchyma morphology
Abnormal liver parenchyma morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1868139
Disease: Medullary cystic kidney disease 1
Medullary cystic kidney disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.020 None 1.000 2 2000 2001
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 15 0.960 None 1.000 10 15 2001 2019
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts 		disease Disease or Syndrome 8 0.100 None 0
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C0266619
Disease: Potter's facies
Potter's facies 		disease Congenital Abnormality 9 0.100 None 0
CUI: C0275814
Disease: Streptococcal lymphadenitis of swine
Streptococcal lymphadenitis of swine 		disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2002 2002
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 7 0.330 None 1.000 4 2008 2018
CUI: C1856659
Disease: Polysplenia
Polysplenia 		disease Congenital Abnormality 15 0.100 None 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		phenotype Finding 17 1 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2002 2002
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 0.510 None 1.000 2 2010 2012
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 28 0.010 None 1.000 1 2002 2002
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C0267834
Disease: Liver cyst
Liver cyst 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 26 5 0.100 None 0
CUI: C0014394
Disease: Enuresis
Enuresis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 27 3 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 0.100 None 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease Digestive System Diseases Disease or Syndrome 30 0.100 None 0