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Details
Link-It Detail - Disease - Congenital pes cavus
Debug Stats
  • ### Total Build Time: 24 ms 29.522 KB
  • CONCEPT_NAME gt=1 ms Completed: 0 ms rowSize= 338 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=0 Completed: 0 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=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=6 ms Completed: 6 ms rowSize= 3.644 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 24.324 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital pes cavus C0728829
Relationships (6)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 5


Relationships:
associated_​with : 1
classifies : 2
location_​of : 1
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Arch of foot C0230467
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOassociated_withimg Congenital abnormal curvature C0332944
DISO_to_DISOmapped_toimg Congenital pes cavus C0728829
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmapped_toimg Talipes cavus C0039273
Genes (53)

Species:
human : 53
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanSBF281846SET binding factor 2
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanPRX57716periaxin
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanGDAP154332ganglioside induced differentiation associated protein 1
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanATL151062atlastin GTPase 1
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
img OMIM, Score=1000, UMLKSK CUI: C0728829
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanHSPB826353heat shock 22kDa protein 8
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanSACS26278spastic ataxia of Charlevoix-Saguenay (sacsin)
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanZFYVE2623503zinc finger, FYVE domain containing 26
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanSPG2023111spastic paraplegia 20 (Troyer syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanKIF1B23095kinesin family member 1B
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanSETX23064senataxin
img OMIM, Score=1000, UMLKSK CUI: C0728829
img OMIM, Score=666, UMLKSK CUI: C0728829
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanMFN29927mitofusin 2
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanKIAA01969897KIAA0196
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanLITAF9516lipopolysaccharide-induced TNF factor
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanGAN8139gigaxonin
img OMIM, Score=1000, UMLKSK CUI: C0728829
HumanRAB7A7879RAB7A, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0728829
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0728829Congenital pes cavus0self