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Details
Link-It Detail - Disease - Congenital hypoplasia of penis
Debug Stats
  • ### Total Build Time: 43 ms 31.699 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=28 ms Completed: 28 ms rowSize= 4.539 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 25.576 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital hypoplasia of penis C0266435
Relationships (7)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 5
diso_​to_​gene : 1


Relationships:
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
location_​of : 1
mapped_​to : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Penis C0030851
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOclassifiesimg ABNORM UROGENITAL C0042063
DISO_to_DISOexpanded_form_ofimg Congenital hypoplasia of penis C0266435
DISO_to_DISOclassifiesimg Other genitourinary congenital anomalies C0810362
DISO_to_DISOmapped_toimg Small penis C0240701
DISO_to_GENErelated_toimg SRD5A2 gene C0919429
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanHPE6117190holoprosencephaly 6
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanAHRR57491aryl-hydrocarbon receptor repressor
img GENERIF, Score=1000, Pubmed Id: 11835227, UMLKSK CUI: C0266435
img GENERIF, Score=1000, Pubmed Id: 15758562, UMLKSK CUI: C0266435
img GAD, Score=1000, Pubmed Id: 11835227, UMLKSK CUI: C0266435
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanTBCE6905tubulin folding cofactor E
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
img GENERIF, Score=1000, Pubmed Id: 12843198, UMLKSK CUI: C0266435
img GAD, Score=1000, Pubmed Id: 12843198, UMLKSK CUI: C0266435
img GAD, Score=1000, Pubmed Id: 15201804, UMLKSK CUI: C0266435
HumanSOX26657SRY (sex determining region Y)-box 2
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanINSL33640insulin-like 3 (Leydig cell)
img GENERIF, Score=1000, Pubmed Id: 17437853, UMLKSK CUI: C0266435
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanNR5A12516nuclear receptor subfamily 5, group A, member 1
img GENERIF, Score=861, Pubmed Id: 16127213, UMLKSK CUI: C0266435
img GENERIF, Score=1000, Pubmed Id: 17940071, UMLKSK CUI: C0266435
img GAD, Score=1000, Pubmed Id: 16127213, UMLKSK CUI: C0266435
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanDHCR717177-dehydrocholesterol reductase
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanERCC81161excision repair cross-complementing rodent repair deficiency, complementation group 8
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanBMP4652bone morphogenetic protein 4
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanATRX546alpha thalassemia/mental retardation syndrome X-linked
img OMIM, Score=1000, UMLKSK CUI: C0266435
HumanAR367androgen receptor
img GAD, Score=1000, Pubmed Id: 15201804, UMLKSK CUI: C0266435
HumanAHR196aryl hydrocarbon receptor
img GENERIF, Score=1000, Pubmed Id: 11835227, UMLKSK CUI: C0266435
img GAD, Score=1000, Pubmed Id: 15758562, UMLKSK CUI: C0266435
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266435Congenital hypoplasia of penis0self