Human Gene Set: HP_NEPHRONOPHTHISIS


Standard name HP_NEPHRONOPHTHISIS
Systematic name M34530
Brief description Nephronophthisis
Full description or abstract Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. [HPO_CONTRIBUTOR:Eurenomics_fschaefer]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000090
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000090
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 37 genes
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Show members (show 37 source identifiers mapped to 37 genes)
Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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