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Human Gene Set: HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS
Standard name
HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS
Systematic name
M36801
Brief description
Shortening of all distal phalanges of the fingers
Full description or abstract
Hypoplasia of all of the distal phalanx of finger. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0006118
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0006118
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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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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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 14 genes
Gene families
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these 14 genes by gene family
Show members
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14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
27315
27315
PGAP2
post-GPI attachment to proteins 2 [Source:HG...
2737
2737
GLI3
GLI family zinc finger 3 [Source:HGNC Symbol...
284098
284098
PIGW
phosphatidylinositol glycan anchor biosynthe...
2972
2972
BRF1
BRF1 RNA polymerase III transcription initia...
29929
29929
ALG6
ALG6 alpha-1,3-glucosyltransferase [Source:H...
4256
4256
MGP
matrix Gla protein [Source:HGNC Symbol;Acc:H...
5447
5447
POR
cytochrome p450 oxidoreductase [Source:HGNC ...
55650
55650
PIGV
phosphatidylinositol glycan anchor biosynthe...
57020
57020
VPS35L
VPS35 endosomal protein sorting factor like ...
84295
84295
PHF6
PHD finger protein 6 [Source:HGNC Symbol;Acc...
84720
84720
PIGO
phosphatidylinositol glycan anchor biosynthe...
84992
84992
PIGY
phosphatidylinositol glycan anchor biosynthe...
93210
93210
PGAP3
post-GPI attachment to proteins phospholipas...
9487
9487
PIGL
phosphatidylinositol glycan anchor biosynthe...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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