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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
phenotype Finding 17 1 0.100 None 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 3 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 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: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 53 38 0.300 limited 0
CUI: C0266619
Disease: Potter's facies
Potter's facies
disease Congenital Abnormality 9 0.100 None 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 41 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
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney
phenotype Finding 27 2 0.100 None 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 80 6 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1856659
Disease: Polysplenia
Polysplenia
disease Congenital Abnormality 15 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.300 strong 0
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas
disease Digestive System Diseases Disease or Syndrome 72 0.100 None 0