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Details
Link-It Detail - Disease - Darier Disease
Debug Stats
  • ### Total Build Time: 213 ms 29.734 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 687 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 985 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.110 KB
  • CONCEPT_RELATIONSHIPS gt=165 ms Completed: 165 ms rowSize= 13.553 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 8.753 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Darier Disease C0022595
Definition (1)
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Keratosis C0022593
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Keratosis C0022593
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 (65)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 6
diso_​to_​diso : 51
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 23
alias_​of : 1
associated_​with : 2
isa : 6
location_​of : 1
manifestation_​of : 27
mapped_​to : 3
related_​to : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN51img genetic aspects C0017399
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_DISO38img Complication Aspects C1171258
DISO_to_CHEM30img Ca(2+)-Transporting ATPase C0001476
DISO_to_CHEM25img Ca2+-ATPase, Sarco-Endoplasmic Reticulum C0916181
DISO_to_CHEM25img Sarcoplasmic Reticulum Calcium-Transporting ATPases C0916181
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_PHYS10img Mutation C0026882
DISO_to_PHYS9img Mutation, Missense C0599155
DISO_to_ANAT7img Skin C1123023
DISO_to_DISO6img Familial benign pemphigus C0085106
DISO_to_ANAT5img Epidermis C0014520
DISO_to_CHEM5img AGENT DERMATOL C0011625
DISO_to_DISO5img Acrodermatitides C0001197
DISO_to_DISO5img Dermatoses, Facial C0015456
DISO_to_DISO5img Familial benign pemphigus C0085106
DISO_to_ANAT4img Keratinocytes C0022567
DISO_to_CHEM4img AGENT DERMATOL C0011625
DISO_to_CHEM4img Calcium C0006675
DISO_to_DISO4img Acantholysis C0000887
DISO_to_DISO4img Alopecia C0002170
DISO_to_DISO4img Eyelid Diseases C0015423
DISO_to_DISO4img Keratosis C0022593
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOmapped_toimg ATROPHODERMIA RETICULATA C0263429
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanHLA-DQB13119
img OMIM, Score=1000, UMLKSK CUI: C0022595
HumanHLA-DQA13117
img OMIM, Score=1000, UMLKSK CUI: C0022595
HumanATP2A2488ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
img GENERIF, Score=901, Pubmed Id: 16958257, UMLKSK CUI: C0022595
img GENERIF, Score=1000, Pubmed Id: 12925205, UMLKSK CUI: C0022595
img GENERIF, Score=734, Pubmed Id: 16766529, UMLKSK CUI: C0022595
img GAD, Score=1000, Pubmed Id: 10441324, UMLKSK CUI: C0022595
img GENERIF, Score=1000, Pubmed Id: 15186327, UMLKSK CUI: C0022595
img GENERIF, Score=1000, Pubmed Id: 15927817, UMLKSK CUI: C0022595
img GENERIF, Score=1000, Pubmed Id: 18482030, UMLKSK CUI: C0022595
img GENERIF, Score=1000, Pubmed Id: 12670936, UMLKSK CUI: C0022595
img GENERIF, Score=1000, Pubmed Id: 16552539, UMLKSK CUI: C0022595
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0022595Darier Disease0self