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Human Gene Set: HP_DIMPLE_CHIN
Standard name
HP_DIMPLE_CHIN
Systematic name
M37637
Brief description
Dimple chin
Full description or abstract
A persistent midline depression of the skin over the fat pad of the chin. [PMID:19125436]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010751
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010751
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
format:
grp
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gmt
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xml
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json
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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 15 genes
Gene families
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Categorize
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
117581
117581
TWIST2
twist family bHLH transcription factor 2 [S...
2146
2146
EZH2
enhancer of zeste 2 polycomb repressive com...
23384
23384
SPECC1L
sperm antigen with calponin homology and co...
259232
259232
NALCN
sodium leak channel, non-selective [Source:...
348180
348180
CTU2
cytosolic thiouridylase subunit 2 [Source:H...
3763
3763
KCNJ6
potassium inwardly rectifying channel subfa...
4621
4621
MYH3
myosin heavy chain 3 [Source:HGNC Symbol;Ac...
50945
50945
TBX22
T-box transcription factor 22 [Source:HGNC ...
5295
5295
PIK3R1
phosphoinositide-3-kinase regulatory subuni...
55636
55636
CHD7
chromodomain helicase DNA binding protein 7...
63895
63895
PIEZO2
piezo type mechanosensitive ion channel com...
6595
6595
SMARCA2
SWI/SNF related, matrix associated, actin d...
7020
7020
TFAP2A
transcription factor AP-2 alpha [Source:HGN...
860
860
RUNX2
RUNX family transcription factor 2 [Source:...
9723
9723
SEMA3E
semaphorin 3E [Source:HGNC Symbol;Acc:HGNC:...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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