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Details
Link-It Detail - Disease - Freckles
Debug Stats
  • ### Total Build Time: 33 ms 25.088 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 314 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=6 ms Completed: 6 ms rowSize= 2.918 KB
  • CONCEPT_GENES gt=23 ms Completed: 23 ms rowSize= 20.650 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Freckles C0016689
Relationships (4)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 2
diso_​to_​phys : 1


Relationships:
associated_​with : 2
location_​of : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOpermuted_term_ofimg Freckles C0016689
DISO_to_DISOassociated_withimg Macule C0332573
DISO_to_PHYSassociated_withimg Pigmentation C0031911
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanTPCN2219931two pore segment channel 2
img GENERIF, Score=1000, Pubmed Id: 18488028, UMLKSK CUI: C0016689
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanHPS511234Hermansky-Pudlak syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanXPA7507xeroderma pigmentosum, complementation group A
img OMIM, Score=833, UMLKSK CUI: C0016689
HumanSOX106663SRY (sex determining region Y)-box 10
img OMIM, Score=833, UMLKSK CUI: C0016689
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanPOLH5429polymerase (DNA directed), eta
img OMIM, Score=833, UMLKSK CUI: C0016689
HumanOCA24948oculocutaneous albinism II
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanNF14763neurofibromin 1
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanMC1R4157melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
img GENERIF, Score=1000, Pubmed Id: 18079748, UMLKSK CUI: C0016689
img GENERIF, Score=1000, Pubmed Id: 15998953, UMLKSK CUI: C0016689
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanHPS13257Hermansky-Pudlak syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img OMIM, Score=833, UMLKSK CUI: C0016689
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanERCC32071excision repair cross-complementing rodent repair deficiency, complementation group 3
img OMIM, Score=1000, UMLKSK CUI: C0016689
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img OMIM, Score=833, UMLKSK CUI: C0016689
HumanEGF1950epidermal growth factor
img GENERIF, Score=1000, Pubmed Id: 15373782, UMLKSK CUI: C0016689
HumanDDB21643damage-specific DNA binding protein 2, 48kDa
img OMIM, Score=833, UMLKSK CUI: C0016689
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016689Freckles0self