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Details
Link-It Detail - Disease - Pigmentation Disorders
Debug Stats
  • ### Total Build Time: 97 ms 39.701 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 274 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=4 ms Completed: 4 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 3.523 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.509 KB
  • CONCEPT_RELATIONSHIPS gt=67 ms Completed: 67 ms rowSize= 13.881 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 18.283 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pigmentation Disorders C0549567
Definition (1)
disorders of pigmentation of the skin and other organs, including discoloration, hyperpigmentation and hypopigmentation.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Skin Diseases C0037274
Children (8)
img Yellow Nail Syndrome C0221348
img Argyria C0003782
img Urticaria Pigmentosa C0042111
img Hyperpigmentation C0162834
img Cafe-au-Lait Spots C0221263
img Incontinentia Pigmenti C0021171
img Hypopigmentation C0162835
img Xeroderma Pigmentosum C0043346
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372743img Skin Diseases C0037274
Relationships (174)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 18
diso_​to_​diso : 136
diso_​to_​phen : 2
diso_​to_​phys : 12


Relationships:
none : 69
classifies : 1
entry_​version_​of : 1
isa : 36
mapped_​to : 62
use : 5
Page Size
Current 25
  Page 1 of 7
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN109img genetic aspects C0017399
DISO_to_PHEN89img genetic aspects C0017399
DISO_to_DISO80img chemically induced C0007994
DISO_to_DISO76img chemically induced C0007994
DISO_to_DISO53img Complication Aspects C1171258
DISO_to_DISO45img Complication Aspects C1171258
DISO_to_DISO41img Cutaneous tumor C0037286
DISO_to_DISO36img Nail Diseases C0027339
DISO_to_DISO30img Cutaneous tumor C0037286
DISO_to_PHYS28img Skin Pigmentation C0037290
DISO_to_DISO27img Nail Diseases C0027339
DISO_to_ANAT24img Skin C1123023
DISO_to_PHYS24img Skin Pigmentation C0037290
DISO_to_ANAT21img Melanocytes C0025201
DISO_to_CHEM19img ADENOSINE DEAMINASE C0001457
DISO_to_CHEM18img (2E,4S,4aR,5aS,12aR)- 2-(amino-hydroxy-methylidene)- 4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6- tetrahydro-4H-tetracene- 1,3,12-trione C0026187
DISO_to_CHEM18img Anti-Bacterial Agents C0279516
DISO_to_CHEM18img Minocycline C0026187
DISO_to_DISO18img Dermatologic disorders C0037274
DISO_to_DISO18img Gingival Diseases C0017563
DISO_to_DISO17img Melanoma C0025202
DISO_to_PHYS17img Mutation C0026882
DISO_to_ANAT15img Skin C1123023
DISO_to_CHEM15img ADENOSINE DEAMINASE C0001457
DISO_to_DISO15img Angiomyxoma C0027149
Genes (187)

Species:
human : 187
Page Size
Current 25
  Page 1 of 8
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanAIS260402Adolescent idiopathic scoliosis
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanHIST1H2AA221613histone cluster 1, H2aa
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanDTNBP184062dystrobrevin binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanHPS679803Hermansky-Pudlak syndrome 6
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanMLPH79083melanophilin
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanXYLT264132xylosyltransferase II
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanXYLT164131xylosyltransferase I
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanC12orf1060314chromosome 12 open reading frame 10
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanMRAP56246melanocortin 2 receptor accessory protein
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanNOP1055505NOP10 ribonucleoprotein
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanSLC45A251151solute carrier family 45, member 2
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanROBLD328956
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanPTPN2226191protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
INFERRED, Score=800, UMLKSK CUI: C0549567
HumanRAB3823682RAB38, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0549567
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0549567Pigmentation Disorders0self