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Human Gene Set: HP_APLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS
Standard name
HP_APLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS
Systematic name
M47148
Brief description
Aplasia involving bones of the upper limbs
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0009823
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0009823
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0009802
Aplasia of the phalanges of the hand
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 16 genes
Gene families
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these 16 genes by gene family
Show members
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16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1954
1954
MEGF8
multiple EGF like domains 8 [Source:HGNC Sym...
2177
2177
FANCD2
FA complementation group D2 [Source:HGNC Sym...
2263
2263
FGFR2
fibroblast growth factor receptor 2 [Source:...
2697
2697
GJA1
gap junction protein alpha 1 [Source:HGNC Sy...
4000
4000
LMNA
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636]
50814
50814
NSDHL
NAD(P) dependent steroid dehydrogenase-like ...
526
526
ATP6V1B2
ATPase H+ transporting V1 subunit B2 [Source...
55697
55697
VAC14
VAC14 component of PIKFYVE complex [Source:H...
64327
64327
LMBR1
limb development membrane protein 1 [Source:...
6469
6469
SHH
sonic hedgehog signaling molecule [Source:HG...
658
658
BMPR1B
bone morphogenetic protein receptor type 1B ...
6910
6910
TBX5
T-box transcription factor 5 [Source:HGNC Sy...
7204
7204
TRIO
trio Rho guanine nucleotide exchange factor ...
7516
7516
XRCC2
X-ray repair cross complementing 2 [Source:H...
9742
9742
IFT140
intraflagellar transport 140 [Source:HGNC Sy...
9896
9896
FIG4
FIG4 phosphoinositide 5-phosphatase [Source:...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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