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Details
Link-It Detail - Disease - CAMAK - Cerebro-oculo-facio-skeletal syndrome
Debug Stats
  • ### Total Build Time: 198 ms 17.520 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 388 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=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=1 ms Completed: 1 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=174 ms Completed: 174 ms rowSize= 13.129 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 2.763 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.179 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CAMAK - Cerebro-oculo-facio-skeletal syndrome C0220722
Relationships (50)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 43
diso_​to_​gene : 4


Relationships:
alias_​of : 1
gene_​associated_​with_​disease : 4
gene_​product_​malfunction_​associated_​with_​disease : 3
manifestation_​of : 42
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg DNA Excision Repair Protein ERCC-2 C0168553
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg DNA Excision Repair Protein ERCC-5 C1333232
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Xeroderma Pigmentosum Group D Protein C0168553
DISO_to_DISOmanifestation_ofimg 'Rocker bottom' feet C0240912
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Birth weight normal C0456136
DISO_to_DISOmanifestation_ofimg Blepharophimoses C0005744
DISO_to_DISOalias_ofimg CAMAK - Cerebro-oculo-facio-skeletal syndrome C0220722
DISO_to_DISOmanifestation_ofimg CEREBELLAR HYPOPLASIA C0266470
DISO_to_DISOmanifestation_ofimg Cataract C0086543
DISO_to_DISOmanifestation_ofimg Caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group 6 gene (ERCC6, 133540.0007) C1859225
DISO_to_DISOmanifestation_ofimg Congenital Camptodactyly C0685409
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmanifestation_ofimg Coxa valga C0239137
DISO_to_DISOmanifestation_ofimg Death before age 5 C1859226
DISO_to_DISOmanifestation_ofimg Deep set eyes C1860310
DISO_to_DISOmanifestation_ofimg Elbow flexion contracture C0409338
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Flexion contracture of knees C0409355
DISO_to_DISOmanifestation_ofimg Focal microgyria C1859217
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see 610756, 133530, 610758) C1859227
DISO_to_DISOmanifestation_ofimg Hirsutism C0019572
DISO_to_DISOmanifestation_ofimg Infantile spasms C0037769
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Kyphoscoliosis deformity of spine C0575158
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img GENERIF, Score=1000, Pubmed Id: 18628313, UMLKSK CUI: C0220722
HumanERCC12067excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
img GENERIF, Score=1000, Pubmed Id: 17273966, UMLKSK CUI: C0220722
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220722CAMAK - Cerebro-oculo-facio-skeletal syndrome0self