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Details
Link-It Detail - Disease - Polycystic Kidney Diseases
Debug Stats
  • ### Total Build Time: 66 ms 54.097 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 370 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 559 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.007 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.827 KB
  • CONCEPT_RELATIONSHIPS gt=36 ms Completed: 36 ms rowSize= 13.922 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 33.721 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Polycystic Kidney Diseases C0022680
Definition (1)
Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Kidney Diseases, Cystic C1691228
Children (2)
img Polycystic Kidney, Autosomal Dominant C0085413
img Polycystic Kidney, Autosomal Recessive C0085548
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Kidney Diseases, Cystic C1691228
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Kidney Diseases, Cystic C1691228
Relationships (72)

Relation Types:
diso_​to_​anat : 10
diso_​to_​chem : 13
diso_​to_​diso : 40
diso_​to_​gene : 3
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 49
classifies : 2
clinically_​similar : 6
gene_​associated_​with_​disease : 3
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 2
isa : 1
mapped_​to : 8
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN132img genetic aspects C0017399
DISO_to_PHEN104img genetic aspects C0017399
DISO_to_DISO80img Complication Aspects C1171258
DISO_to_DISO56img Complication Aspects C1171258
DISO_to_ANAT39img Kidney C0022646
DISO_to_ANAT32img Kidney C0022646
DISO_to_CHEM27img Cation Channels, TRPP C1153432
DISO_to_DISO19img Animal Disease Models C0012644
DISO_to_ANAT18img Cilia C0008778
DISO_to_DISO18img Cyst C0010709
DISO_to_CHEM17img Proteins C0033684
DISO_to_DISO17img Liver Diseases C0023895
DISO_to_DISO16img Kidney Failure, Chronic C0022661
DISO_to_DISO16img Kidney Neoplasm C0022665
DISO_to_CHEM14img Membrane Associated Proteins C0025252
DISO_to_DISO12img Kidney Neoplasm C0022665
DISO_to_DISO11img Abnormalities, Multiple C0000772
DISO_to_DISO11img Kidney Failure, Chronic C0022661
DISO_to_ANAT10img Cilia C0008778
DISO_to_CHEM10img Sirolimus C0072980
DISO_to_DISO10img Ciliary Motility Disorders C0008780
DISO_to_DISO9img Congenital cerebral hernia C0014065
DISO_to_ANAT8img Kidney Tubules C0022674
DISO_to_CHEM8img Immunosuppressive Agents C0021081
DISO_to_CHEM8img Proteins, Tumor Suppressor C0597611
Genes (27)

Species:
human : 27
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanCDC7379577cell division cycle 73
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanNPHP327031nephronophthisis 3 (adolescent)
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=833, UMLKSK CUI: C0022680
HumanMKKS8195McKusick-Kaufman syndrome
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanTSC27249tuberous sclerosis 2
img GENERIF, Score=1000, Pubmed Id: 11836366, UMLKSK CUI: C0022680
HumanHNF1B6928HNF1 homeobox B
img GENERIF, Score=1000, Pubmed Id: 18037103, UMLKSK CUI: C0022680
HumanPTGER25732prostaglandin E receptor 2 (subtype EP2), 53kDa
img GENERIF, Score=1000, Pubmed Id: 17728378, UMLKSK CUI: C0022680
HumanPKHD15314polycystic kidney and hepatic disease 1 (autosomal recessive)
img GENERIF, Score=1000, Pubmed Id: 11898128, UMLKSK CUI: C0022680
img GAD, Score=1000, Pubmed Id: 16199545, UMLKSK CUI: C0022680
HumanPKD25311polycystic kidney disease 2 (autosomal dominant)
img GAD, Score=1000, Pubmed Id: 15717641, UMLKSK CUI: C0022680
img GENERIF, Score=1000, Pubmed Id: 11854751, UMLKSK CUI: C0022680
HumanPKD15310polycystic kidney disease 1 (autosomal dominant)
img OMIM, Score=1000, UMLKSK CUI: C0022680
img GAD, Score=1000, Pubmed Id: 12220456, UMLKSK CUI: C0022680
img GENERIF, Score=756, Pubmed Id: 17102641, UMLKSK CUI: C0022680
img GENERIF, Score=1000, Pubmed Id: 11836366, UMLKSK CUI: C0022680
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
img GAD, Score=1000, Pubmed Id: 15628301, UMLKSK CUI: C0022680
img GAD, Score=1000, Pubmed Id: 11823442, UMLKSK CUI: C0022680
HumanNEK14750NIMA-related kinase 1
img GENERIF, Score=1000, Pubmed Id: 14690447, UMLKSK CUI: C0022680
HumanMYC4609v-myc avian myelocytomatosis viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 11956070, UMLKSK CUI: C0022680
HumanMTOR2475mechanistic target of rapamycin (serine/threonine kinase)
img GENERIF, Score=756, Pubmed Id: 17102641, UMLKSK CUI: C0022680
HumanEYA12138eyes absent homolog 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanETFDH2110electron-transferring-flavoprotein dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanETFB2109electron-transfer-flavoprotein, beta polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanETFA2108electron-transfer-flavoprotein, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0022680
HumanERBB22064v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
img GENERIF, Score=1000, Pubmed Id: 16797938, UMLKSK CUI: C0022680
HumanEGFR1956epidermal growth factor receptor
img GAD, Score=1000, Pubmed Id: 12653106, UMLKSK CUI: C0022680
HumanACE1636angiotensin I converting enzyme
img GAD, Score=1000, Pubmed Id: 9399039, UMLKSK CUI: C0022680
img GAD, Score=1000, Pubmed Id: 10983692, UMLKSK CUI: C0022680
img GAD, Score=1000, Pubmed Id: 9180368, UMLKSK CUI: C0022680
HumanCPT21376carnitine palmitoyltransferase 2
img OMIM, Score=882, UMLKSK CUI: C0022680
HumanAGTR1185angiotensin II receptor, type 1
img GAD, Score=1000, Pubmed Id: 15628301, UMLKSK CUI: C0022680
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0022680Polycystic Kidney Diseases0self