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Details
Link-It Detail - Human Phenotype - Abnormality of subcutaneous fat tissue
Debug Stats
  • ### Total Build Time: 21 ms 23.074 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 213 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= 1.085 KB
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 1.442 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.023 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 16.139 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of subcutaneous fat tissue HP:0001001
Parents (3)
img Generalized abnormality of skin HP:0011354
img Abnormality of the skin HP:0000951
img Abnormality of adipose tissue HP:0009124
Children (4)
img Decreased subcutaneous fat HP:0001002
img Abnormal subcutaneous fat tissue distribution HP:0007552
img Subcutaneous lipoma HP:0001031
img Yellow subcutaneous tissue covered by thin, scaly skin HP:0007525
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Generalized abnormality of skin HP:0011354
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of adipose tissue HP:0009124
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanLMNB284823lamin B2
img HP RolledUp, OMIM ID: 608709
HumanRBM2855131RNA binding motif protein 28
img HP RolledUp, OMIM ID: 612079
HumanZMPSTE2410269zinc metallopeptidase STE24
img HP RolledUp, OMIM ID: 608612
HumanTGFB17040transforming growth factor, beta 1
img HP RolledUp, OMIM ID: 131300
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
img HP RolledUp, OMIM ID: 227810
HumanPTEN5728phosphatase and tensin homolog
img HP RolledUp, OMIM ID: 158350
HumanPPP1R3A5506protein phosphatase 1, regulatory subunit 3A
img HP RolledUp, OMIM ID: 604367
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img HP RolledUp, OMIM ID: 604367
img HP RolledUp, OMIM ID: 151660
HumanPMM25373phosphomannomutase 2
img HP RolledUp, OMIM ID: 212065
HumanMEN14221multiple endocrine neoplasia I
img HP RolledUp, OMIM ID: 131100
HumanLMNA4000lamin A/C
img HP RolledUp, OMIM ID: 248370
img HP RolledUp, OMIM ID: 151660
HumanFH2271fumarate hydratase
img HP RolledUp, OMIM ID: 606812
HumanFBN12200fibrillin 1
img HP RolledUp, OMIM ID: 154700
HumanERCC42072excision repair cross-complementing rodent repair deficiency, complementation group 4
img HP RolledUp, OMIM ID: 610965
HumanERCC32071excision repair cross-complementing rodent repair deficiency, complementation group 3
img HP RolledUp, OMIM ID: 601675
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img HP RolledUp, OMIM ID: 601675
HumanBMPR1A657bone morphogenetic protein receptor, type IA
img HP RolledUp, OMIM ID: 158350
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001001Abnormality of subcutaneous fat tissue0self