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Details
Link-It Detail - Human Phenotype - Abnormal shape of the occiput
Debug Stats
  • ### Total Build Time: 34 ms 28.061 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 204 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=7 ms Completed: 7 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 456 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 755 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.045 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 22.466 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal shape of the occiput HP:0011217
Parents (1)
img Abnormality of calvarial morphology HP:0002648
Children (2)
img Flat occiput HP:0005469
img Prominent occiput HP:0000269
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of calvarial morphology HP:0002648
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of calvarial morphology HP:0002648
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of calvarial morphology HP:0002648
Genes (58)

Species:
human : 58
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 122600
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
HumanITCH83737itchy E3 ubiquitin protein ligase
img HP RolledUp, OMIM ID: 613385
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 263510
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 130650
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 214100
HumanTMEM7054968transmembrane protein 70
img HP RolledUp, OMIM ID: 614052
HumanATP6V0A223545ATPase, H+ transporting, lysosomal V0 subunit a2
img HP RolledUp, OMIM ID: 278250
HumanKAT6B23522K(lysine) acetyltransferase 6B
img HP RolledUp, OMIM ID: 603736
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanCLINT19685clathrin interactor 1
img HP RolledUp, OMIM ID: 181510
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img HP RolledUp, OMIM ID: 608799
HumanPEX38504peroxisomal biogenesis factor 3
img HP RolledUp, OMIM ID: 214100
HumanMOGS7841mannosyl-oligosaccharide glucosidase
img HP RolledUp, OMIM ID: 606056
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanUBE3A7337ubiquitin protein ligase E3A
img HP RolledUp, OMIM ID: 105830
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img HP RolledUp, OMIM ID: 123100
HumanTFAP2B7021transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
img HP RolledUp, OMIM ID: 169100
HumanCDKL56792cyclin-dependent kinase-like 5
img HP RolledUp, OMIM ID: 105830
HumanSCZD16377schizophrenia disorder 1
img HP RolledUp, OMIM ID: 181510
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011217Abnormal shape of the occiput0self