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Human Gene Set: HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES
Standard name
HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES
Systematic name
M37506
Brief description
Aplasia/Hypoplasia of the distal phalanges of the toes
Full description or abstract
Absence or underdevelopment of the distal phalanges of the toes. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010185
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010185
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 17 genes
Gene families
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Categorize
these 17 genes by gene family
Show members
(
show
17 source identifiers mapped to 17 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
2239
2239
GPC4
glypican 4 [Source:HGNC Symbol;Acc:HGNC:4452]
285203
285203
EOGT
EGF domain specific O-linked N-acetylglucos...
3239
3239
HOXD13
homeobox D13 [Source:HGNC Symbol;Acc:HGNC:5...
3756
3756
KCNH1
potassium voltage-gated channel subfamily H...
3782
3782
KCNN3
potassium calcium-activated channel subfami...
415
415
ARSL
arylsulfatase L [Source:HGNC Symbol;Acc:HGN...
4920
4920
ROR2
receptor tyrosine kinase like orphan recept...
51776
51776
MAP3K20
mitogen-activated protein kinase kinase kin...
5281
5281
PIGF
phosphatidylinositol glycan anchor biosynth...
54101
54101
RIPK4
receptor interacting serine/threonine kinas...
55697
55697
VAC14
VAC14 component of PIKFYVE complex [Source:...
5744
5744
PTHLH
parathyroid hormone like hormone [Source:HG...
57492
57492
ARID1B
AT-rich interaction domain 1B [Source:HGNC ...
59341
59341
TRPV4
transient receptor potential cation channel...
6910
6910
TBX5
T-box transcription factor 5 [Source:HGNC S...
9241
9241
NOG
noggin [Source:HGNC Symbol;Acc:HGNC:7866]
9896
9896
FIG4
FIG4 phosphoinositide 5-phosphatase [Source...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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