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Details
Link-It Detail - Disease - Xeroderma Pigmentosum
Debug Stats
  • ### Total Build Time: 64 ms 79.788 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 400 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 764 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= 187 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 2.705 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 10.573 KB
  • CONCEPT_RELATIONSHIPS gt=24 ms Completed: 24 ms rowSize= 14.383 KB
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 49.617 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Xeroderma Pigmentosum C0043346
Angioma Pigmentosum Atrophicum
Definition (1)
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.
Semantic Types (1)
Neoplastic Process (T191)
Parents (6)
img Pigmentation Disorders C0549567
img Precancerous Conditions C0032927
img DNA Repair-Deficiency Disorders C1563696
img Skin Abnormalities C0037268
img Photosensitivity Disorders C0031762
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Pigmentation Disorders C0549567
img Neoplasms C0027651img Precancerous Conditions C00329273img Precancerous Conditions C0032927
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Photosensitivity Disorders C0031762
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (47)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 6
diso_​to_​diso : 29
diso_​to_​gene : 2
diso_​to_​phen : 3
diso_​to_​phys : 4


Relationships:
none : 24
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 10
location_​of : 1
mapped_​to : 2
may_​be_​associated_​disease_​of_​disease : 3
permuted_​term_​of : 1
use : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN106img genetic aspects C0017399
DISO_to_PHEN86img genetic aspects C0017399
DISO_to_DISO45img Complication Aspects C1171258
DISO_to_PHYS45img DNA Damage Repair C0012899
DISO_to_DISO41img Cutaneous tumor C0037286
DISO_to_DISO34img Cutaneous tumor C0037286
DISO_to_DISO33img Complication Aspects C1171258
DISO_to_CHEM32img Binding Protein, DNA C0012940
DISO_to_CHEM30img Binding Protein, DNA C0012940
DISO_to_PHYS30img DNA Damage Repair C0012899
DISO_to_PHEN19img Ultraviolet Rays C0041625
DISO_to_PHYS18img Mutation C0026882
DISO_to_DISO14img Carcinoma, Squamous Cell C0007137
DISO_to_CHEM13img DNA-Directed DNA Polymerase C0012892
DISO_to_DISO13img Cockayne Syndrome C0009207
DISO_to_DISO13img DNA Damage C0012860
DISO_to_PHYS13img Mutation C0026882
DISO_to_DISO12img Cockayne Syndrome C0009207
DISO_to_DISO11img Melanoma C0025202
DISO_to_ANAT10img Skin C1123023
DISO_to_CHEM10img DNA-Directed DNA Polymerase C0012892
DISO_to_CHEM10img Xeroderma Pigmentosum Group A Protein C0085030
DISO_to_DISO10img Basal cell carcinoma C0007117
DISO_to_DISO10img DNA Damage C0012860
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
Genes (45)

Species:
human : 44
mouse : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
MouseERCC32071excision repair cross-complementing rodent repair deficiency, complementation group 3
img NCI, Score=801, Pubmed Id: 1747940, UMLKSK CUI: C0043346
HumanHIST1H2AA221613histone cluster 1, H2aa
img NCI, Score=801, Pubmed Id: 16473935, UMLKSK CUI: C0043346
HumanPOLI11201polymerase (DNA directed) iota
img NCI, Score=801, Pubmed Id: 14559213, UMLKSK CUI: C0043346
HumanRAD54L8438RAD54-like (S. cerevisiae)
img NCI, Score=801, Pubmed Id: 10640146, UMLKSK CUI: C0043346
HumanXRCC57520X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
img NCI, Score=801, Pubmed Id: 9868398, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12638184, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12638184, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 9868398, UMLKSK CUI: C0043346
HumanXRCC37517X-ray repair complementing defective repair in Chinese hamster cells 3
img NCI, Score=801, Pubmed Id: 10556596, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 14688016, UMLKSK CUI: C0043346
HumanXRCC27516X-ray repair complementing defective repair in Chinese hamster cells 2
img NCI, Score=801, Pubmed Id: 10556596, UMLKSK CUI: C0043346
HumanXPC7508xeroderma pigmentosum, complementation group C
Click here to display 25 evidence detail records.
HumanXPA7507xeroderma pigmentosum, complementation group A
img GENERIF, Score=734, Pubmed Id: 12897146, UMLKSK CUI: C0043346
img GENERIF, Score=1000, Pubmed Id: 18585952, UMLKSK CUI: C0043346
img GENERIF, Score=1000, Pubmed Id: 12459522, UMLKSK CUI: C0043346
HumanWRN7486Werner syndrome, RecQ helicase-like
img NCI, Score=801, Pubmed Id: 12638184, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12638184, UMLKSK CUI: C0043346
HumanSSX26757synovial sarcoma, X breakpoint 2
img NCI, Score=801, Pubmed Id: 11454979, UMLKSK CUI: C0043346
HumanSMO6608smoothened, frizzled family receptor
img GENERIF, Score=660, Pubmed Id: 12499255, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 15150112, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12499255, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 15978322, UMLKSK CUI: C0043346
HumanSHH6469sonic hedgehog
img NCI, Score=801, Pubmed Id: 15150112, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12499255, UMLKSK CUI: C0043346
HumanRPA16117replication protein A1, 70kDa
img NCI, Score=801, Pubmed Id: 1508673, UMLKSK CUI: C0043346
HumanRAD515888RAD51 recombinase
img NCI, Score=801, Pubmed Id: 10556596, UMLKSK CUI: C0043346
HumanRAD23B5887RAD23 homolog B (S. cerevisiae)
img NCI, Score=801, Pubmed Id: 10488153, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 10873465, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 9372923, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12832454, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 8808275, UMLKSK CUI: C0043346
HumanRAD23A5886RAD23 homolog A (S. cerevisiae)
img GENERIF, Score=734, Pubmed Id: 16105547, UMLKSK CUI: C0043346
HumanPRKDC5591protein kinase, DNA-activated, catalytic polypeptide
img NCI, Score=801, Pubmed Id: 9868398, UMLKSK CUI: C0043346
HumanPOLH5429polymerase (DNA directed), eta
Click here to display 25 evidence detail records.
HumanNPM14869nucleophosmin (nucleolar phosphoprotein B23, numatrin)
img NCI, Score=801, Pubmed Id: 10779648, UMLKSK CUI: C0043346
HumanMRE11A4361MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
img NCI, Score=801, Pubmed Id: 11756691, UMLKSK CUI: C0043346
HumanMNAT14331MNAT CDK-activating kinase assembly factor 1
img NCI, Score=801, Pubmed Id: 11445587, UMLKSK CUI: C0043346
HumanLIG43981ligase IV, DNA, ATP-dependent
img NCI, Score=801, Pubmed Id: 15966765, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 15966765, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 15966765, UMLKSK CUI: C0043346
HumanH2AFX3014H2A histone family, member X
img NCI, Score=801, Pubmed Id: 11756691, UMLKSK CUI: C0043346
HumanGTF2H42968general transcription factor IIH, polypeptide 4, 52kDa
img NCI, Score=801, Pubmed Id: 7613092, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 12509240, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 9173976, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 7980491, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 9118947, UMLKSK CUI: C0043346
img NCI, Score=801, Pubmed Id: 9631660, UMLKSK CUI: C0043346
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0043346Xeroderma Pigmentosum0self