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Details
Link-It Detail - Disease - Cardio-facio-cutaneous syndrome
Debug Stats
  • ### Total Build Time: 32 ms 15.589 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 433 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=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 13.476 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cardio-facio-cutaneous syndrome C1275081
Definition (1)
A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanSOS16654son of sevenless homolog 1 (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 18651097, UMLKSK CUI: C1275081
img GENERIF, Score=1000, Pubmed Id: 17586837, UMLKSK CUI: C1275081
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img GENERIF, Score=1000, Pubmed Id: 12384786, UMLKSK CUI: C1275081
HumanMAP2K25605mitogen-activated protein kinase kinase 2
img GENERIF, Score=1000, Pubmed Id: 18413255, UMLKSK CUI: C1275081
img GENERIF, Score=1000, Pubmed Id: 17981815, UMLKSK CUI: C1275081
img GENERIF, Score=1000, Pubmed Id: 17366577, UMLKSK CUI: C1275081
img GENERIF, Score=1000, Pubmed Id: 17704260, UMLKSK CUI: C1275081
img GENERIF, Score=901, Pubmed Id: 16439621, UMLKSK CUI: C1275081
HumanMAP2K15604mitogen-activated protein kinase kinase 1
img GENERIF, Score=1000, Pubmed Id: 17981815, UMLKSK CUI: C1275081
img GENERIF, Score=1000, Pubmed Id: 18413255, UMLKSK CUI: C1275081
img GENERIF, Score=901, Pubmed Id: 16439621, UMLKSK CUI: C1275081
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 17551339, UMLKSK CUI: C1275081
HumanBRAF673v-raf murine sarcoma viral oncogene homolog B
img GENERIF, Score=1000, Pubmed Id: 17483702, UMLKSK CUI: C1275081
img GENERIF, Score=901, Pubmed Id: 16439621, UMLKSK CUI: C1275081
img GENERIF, Score=1000, Pubmed Id: 18413255, UMLKSK CUI: C1275081
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1275081Cardio-facio-cutaneous syndrome0self