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Details
Link-It Detail - Disease - Penile hypospadias
Debug Stats
  • ### Total Build Time: 24 ms 29.868 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 331 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=0 Completed: 0 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=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 27.893 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Penile hypospadias C1691215
Definition (1)
A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities.
Genes (68)

Species:
human : 68
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanMAMLD110046mastermind-like domain containing 1
img GENERIF, Score=861, Pubmed Id: 18635673, UMLKSK CUI: C1691215
img GENERIF, Score=1000, Pubmed Id: 17086185, UMLKSK CUI: C1691215
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanCUL79820cullin 7
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanWTAP9589Wilms tumor 1 associated protein
img GENERIF, Score=861, Pubmed Id: 14675924, UMLKSK CUI: C1691215
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanWT17490Wilms tumor 1
img GAD, Score=1000, Pubmed Id: 15266301, UMLKSK CUI: C1691215
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanHNF1B6928HNF1 homeobox B
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanSTAR6770steroidogenic acute regulatory protein
img OMIM, Score=1000, UMLKSK CUI: C1691215
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
img GENERIF, Score=827, Pubmed Id: 16174723, UMLKSK CUI: C1691215
img GAD, Score=1000, Pubmed Id: 15266301, UMLKSK CUI: C1691215
img GAD, Score=1000, Pubmed Id: 16174723, UMLKSK CUI: C1691215
HumanSRD5A16715steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
img GENERIF, Score=1000, Pubmed Id: 14739525, UMLKSK CUI: C1691215
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1691215Penile hypospadias0self