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Human Gene Set: HP_HYPOPLASTIC_ISCHIA
Standard name
HP_HYPOPLASTIC_ISCHIA
Systematic name
M36202
Brief description
Hypoplastic ischia
Full description or abstract
Underdevelopment of the ischium, which forms the lower and back part of the hip bone. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0003175
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0003175
Filtered by similarity
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Source species
Homo sapiens
Contributed by
Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references
Download gene set
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grp
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gmt
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TSV metadata
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H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
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NG-CHM interactive heatmaps
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10060
10060
ABCC9
ATP binding cassette subfamily C member 9 [...
112752
112752
IFT43
intraflagellar transport 43 [Source:HGNC Sy...
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC...
1301
1301
COL11A1
collagen type XI alpha 1 chain [Source:HGNC...
1302
1302
COL11A2
collagen type XI alpha 2 chain [Source:HGNC...
2263
2263
FGFR2
fibroblast growth factor receptor 2 [Source...
23363
23363
OBSL1
obscurin like cytoskeletal adaptor 1 [Sourc...
23522
23522
KAT6B
lysine acetyltransferase 6B [Source:HGNC Sy...
3339
3339
HSPG2
heparan sulfate proteoglycan 2 [Source:HGNC...
3636
3636
INPPL1
inositol polyphosphate phosphatase like 1 [...
51025
51025
PAM16
presequence translocase associated motor 16...
6913
6913
TBX15
T-box transcription factor 15 [Source:HGNC ...
83879
83879
CDCA7
cell division cycle associated 7 [Source:HG...
83987
83987
CCDC8
coiled-coil domain containing 8 [Source:HGN...
9321
9321
TRIP11
thyroid hormone receptor interactor 11 [Sou...
9820
9820
CUL7
cullin 7 [Source:HGNC Symbol;Acc:HGNC:21024]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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