Human Gene Set: HP_SHOULDER_CONTRACTURE
Standard name
HP_SHOULDER_CONTRACTURE
Systematic name
M48904
Brief description
Shoulder contracture
Full description or abstract
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. [PMID:16214063, PMID:24975760, PMID:31282072]
Collection
C5: Ontology HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0034665
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0034665
Filtered by similarity ?
(show 1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0003044
Shoulder flexion contracture
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
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GTEx compendium
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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 10 genes
Gene families ?
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10 genes by gene family
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(show 10 source identifiers mapped to 10 genes)
Source Id
NCBI (Entrez) Gene Id
Gene Symbol
Gene Description
100151683
100151683
RNU4ATAC
RNA, U4atac small nuclear [Source:HG...
1303
1303
COL12A1
collagen type XII alpha 1 chain [Sou...
29895
29895
MYL11
myosin light chain 11 [Source:HGNC S...
3339
3339
HSPG2
heparan sulfate proteoglycan 2 [Sour...
339855
339855
KY
kyphoscoliosis peptidase [Source:HGN...
3714
3714
JAG2
jagged canonical Notch ligand 2 [Sou...
4621
4621
MYH3
myosin heavy chain 3 [Source:HGNC Sy...
6329
6329
SCN4A
sodium voltage-gated channel alpha s...
7138
7138
TNNT1
troponin T1, slow skeletal type [Sou...
84572
84572
GNPTG
N-acetylglucosamine-1-phosphate tran...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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