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(e.g. rs3825942, PTEN, calcium channel activity, HIV infection, Lung, Hematopoietic cell)
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QuickView for nephronophthisis (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. ZNF423
  2. NPHP1
  3. UMOD
  4. INVS
  5. NPHP3
  1. No SNPs found
Explore Genetic Markers Results

Pathway Enrichment

Most Correlated Biogroups

  1. cilium
  2. kidney development
  3. urogenital system development
  4. determination of stomach left/right asymmetry
  5. determination of intestine left/right asymmetry
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Curated Studies

Most Correlated Studies

  1. Mouse Phenotypes - Kidney diseases
  2. OMIM - Kidney Disorders
  3. OMIM - RHYNS syndrome
  4. OMIM - Joubert and Meckel syndromes
  5. OMIM - Congenital disorder
Explore Curated Studies Results

Literature

Most Relevant Literature

  1. Nephronophthisis: a pathological and genetic perspective.
  2. Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.
  3. Case report of a child with nephronophthisis from South Africa.
  4. The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
  5. Nephronophthisis: a pediatric case report].
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Clinical Trials

Most Relevant Clinical Trials

  1. Nephronophthisis : Clinical and Genetic Study
  2. Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
  3. KidneYou - Innovative Digital Therapy
  4. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
  5. Sensenbrenner Clinical Study
Explore Clinical Trials Results
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