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Details
Link-It Detail - Disease - Congenital absence of kidney
Debug Stats
  • ### Total Build Time: 22 ms 18.409 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 231 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 16.502 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital absence of kidney C0542519
Definition (1)
A congenital abnormality characterized by the absence of one or both kidneys.
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanRXFP2122042relaxin/insulin-like family peptide receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanCLINT19685clathrin interactor 1
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanWNT37473wingless-type MMTV integration site family, member 3
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanUPK3A7380uroplakin 3A
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanRET5979ret proto-oncogene
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanKAL13730Kallmann syndrome 1 sequence
img GENERIF, Score=1000, Pubmed Id: 17603054, UMLKSK CUI: C0542519
HumanINSL33640insulin-like 3 (Leydig cell)
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanFGFR32261fibroblast growth factor receptor 3
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanFGF102255fibroblast growth factor 10
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanFANCA2175Fanconi anemia, complementation group A
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanDHCR717177-dehydrocholesterol reductase
img OMIM, Score=1000, UMLKSK CUI: C0542519
HumanATRX546alpha thalassemia/mental retardation syndrome X-linked
img OMIM, Score=1000, UMLKSK CUI: C0542519
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0542519Congenital absence of kidney0self