NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
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: C3541340
Disease: PONTINE TEGMENTAL CAP DYSPLASIA
PONTINE TEGMENTAL CAP DYSPLASIA 		disease Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 3 0.600 None 1.000 5 1977 2012
CUI: C1968618
Disease: Tubular basement membrane disintegration
Tubular basement membrane disintegration 		phenotype Finding 4 0.100 None 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		disease Finding 4 0.100 None 0
CUI: C4551559
Disease: Senior-Loken Syndrome 1
Senior-Loken Syndrome 1 		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 5 3 0.500 None 1.000 3 1977 2012
CUI: C0232831
Disease: Impairment of urinary concentration
Impairment of urinary concentration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 5 0.100 None 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 7 9 0.010 None 1.000 1 2008 2008
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		phenotype Finding 7 0.100 None 0
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 1998 1998
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Congenital Abnormality 10 2 0.010 None 1.000 1 2000 2000
CUI: C0012817
Disease: Diverticulum
Diverticulum 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 12 0.010 None 1.000 1 2018 2018
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		phenotype Finding 13 4 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 0.010 None 1.000 1 2003 2003
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		disease Disease or Syndrome 17 0.360 None 0.833 6 1999 2013
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 0.800 None 0.952 21 6 1977 2016
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 0.610 None 1.000 4 2005 2013
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.010 None 1.000 1 2008 2008
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		disease Finding 28 2 0.100 None 0
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.010 None 1.000 1 2016 2016
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		phenotype Finding 35 7 0.100 None 0
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		disease Nervous System Diseases Disease or Syndrome 44 6 0.100 None 1.000 11 2 1994 2018