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Human Gene Set: HP_FACIAL_SHAPE_DEFORMATION
Standard name
HP_FACIAL_SHAPE_DEFORMATION
Systematic name
M37821
Brief description
Facial shape deformation
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0011334
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0011334
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0002009
Potter facies
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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xml
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json
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TSV metadata
Compute overlaps
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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 15 genes
Gene families
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these 15 genes by gene family
Show members
(
show
15 source identifiers mapped to 15 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1636
1636
ACE
angiotensin I converting enzyme [Source:HGNC S...
183
183
AGT
angiotensinogen [Source:HGNC Symbol;Acc:HGNC:333]
185
185
AGTR1
angiotensin II receptor type 1 [Source:HGNC Sy...
26275
26275
HIBCH
3-hydroxyisobutyryl-CoA hydrolase [Source:HGNC...
26281
26281
FGF20
fibroblast growth factor 20 [Source:HGNC Symbo...
2674
2674
GFRA1
GDNF family receptor alpha 1 [Source:HGNC Symb...
27031
27031
NPHP3
nephrocystin 3 [Source:HGNC Symbol;Acc:HGNC:7907]
4125
4125
MAN2B1
mannosidase alpha class 2B member 1 [Source:HG...
5076
5076
PAX2
paired box 2 [Source:HGNC Symbol;Acc:HGNC:8616]
5087
5087
PBX1
PBX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:8632]
5314
5314
PKHD1
PKHD1 ciliary IPT domain containing fibrocysti...
55165
55165
CEP55
centrosomal protein 55 [Source:HGNC Symbol;Acc...
5972
5972
REN
renin [Source:HGNC Symbol;Acc:HGNC:9958]
7317
7317
UBA1
ubiquitin like modifier activating enzyme 1 [S...
8516
8516
ITGA8
integrin subunit alpha 8 [Source:HGNC Symbol;A...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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