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Details
Link-It Detail - Human Phenotype - Abnormality of the biliary system
Debug Stats
  • ### Total Build Time: 33 ms 29.202 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 208 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= 445 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.717 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.160 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=32 ms Completed: 32 ms rowSize= 24.516 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the biliary system HP:0004297
Parents (1)
img Abnormality of the liver HP:0001392
Children (5)
img Abnormality of the gallbladder HP:0005264
img Cholestasis HP:0001396
img Portal fibrosis HP:0006580
img Biliary tract abnormality HP:0001080
img Malformation of the hepatic ductal plate HP:0006563
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the liver HP:0001392
Genes (184)

Species:
human : 184
Page Size
Current 25
  Page 1 of 8
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanEKV3574017erythrokeratodermia variabilis 3 (Kamouraska type)
img HP RolledUp, OMIM ID: 609313
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
img HP RolledUp, OMIM ID: 604131
HumanRFX6222546regulatory factor X, 6
img HP RolledUp, OMIM ID: 601346
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanGLIS3169792GLIS family zinc finger 3
img HP RolledUp, OMIM ID: 610199
HumanBBS12166379Bardet-Biedl syndrome 12
img HP RolledUp, OMIM ID: 209900
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanCDAN1146059codanin 1
img HP RolledUp, OMIM ID: 224120
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanBBS5129880Bardet-Biedl syndrome 5
img HP RolledUp, OMIM ID: 209900
HumanEARS2124454glutamyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 614924
HumanTTC8123016tetratricopeptide repeat domain 8
img HP RolledUp, OMIM ID: 209900
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanPIGM93183phosphatidylinositol glycan anchor biosynthesis, class M
img HP RolledUp, OMIM ID: 610293
HumanTMEM6791147transmembrane protein 67
img HP RolledUp, OMIM ID: 216360
img HP RolledUp, OMIM ID: 209900
img HP RolledUp, OMIM ID: 610688
img HP RolledUp, OMIM ID: 607361
HumanGFM185476G elongation factor, mitochondrial 1
img HP RolledUp, OMIM ID: 609060
HumanCIRH1A84916cirrhosis, autosomal recessive 1A (cirhin)
img HP RolledUp, OMIM ID: 604901
HumanCOX4I284701cytochrome c oxidase subunit IV isoform 2 (lung)
img HP RolledUp, OMIM ID: 612714
HumanLCS184565lymphedema-cholestasis syndrome 1
img HP RolledUp, OMIM ID: 214900
HumanARL684100ADP-ribosylation factor-like 6
img HP RolledUp, OMIM ID: 209900
HumanITPKC80271inositol-trisphosphate 3-kinase C
img HP RolledUp, OMIM ID: 611775
HumanHSD3B780270hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
img HP RolledUp, OMIM ID: 607765
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004297Abnormality of the biliary system0self