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Details
Link-It Detail - Disease - Congenital pectus carinatum
Debug Stats
  • ### Total Build Time: 24 ms 27.126 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 352 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=7 ms Completed: 7 ms rowSize= 4.198 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 21.353 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital pectus carinatum C0158731
Relationships (7)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 6


Relationships:
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
location_​of : 1
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Sternum C0038293
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOexpanded_form_ofimg Congenital pectus carinatum C0158731
DISO_to_DISOassociated_withimg Congenital turning outward C0332954
DISO_to_DISOmapped_toimg O/E - pigeon chest C0436715
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmapped_toimg Pectus carinatum C2939416
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanATP6V0A223545ATPase, H+ transporting, lysosomal V0 subunit a2
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanTRPS17227trichorhinophalangeal syndrome I
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanTNNT17138troponin T type 1 (skeletal, slow)
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanMAP2K25605mitogen-activated protein kinase kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanPLOD25352procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanIHH3549indian hedgehog
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanHSPG23339heparan sulfate proteoglycan 2
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanGUSB2990glucuronidase, beta
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanFLNB2317filamin B, beta
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanEVC2121Ellis van Creveld syndrome
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanCOL2A11280collagen, type II, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanBRAF673v-raf murine sarcoma viral oncogene homolog B
img OMIM, Score=1000, UMLKSK CUI: C0158731
HumanATP7A538ATPase, Cu++ transporting, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0158731
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0158731Congenital pectus carinatum0self