Human Gene Set: HP_ABNORMAL_SHOULDER_PHYSIOLOGY
Standard name
HP_ABNORMAL_SHOULDER_PHYSIOLOGY
Systematic name
M41583
Brief description
Abnormal shoulder physiology
Full description or abstract
Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. []
Collection
C5: Ontology HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0033129
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0033129
Filtered by similarity ?
(show 1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0006467
Limited shoulder movement
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
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
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these 14 genes
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14 genes by gene family
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(show 14 source identifiers mapped to 14 genes)
Source Id
NCBI (Entrez) Gene Id
Gene Symbol
Gene Description
10020
10020
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-ace...
10269
10269
ZMPSTE24
zinc metallopeptidase STE24 [Source:HGNC Sym...
1311
1311
COMP
cartilage oligomeric matrix protein [Source:...
2200
2200
FBN1
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
3081
3081
HGD
homogentisate 1,2-dioxygenase [Source:HGNC S...
4000
4000
LMNA
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636]
55906
55906
ZC4H2
zinc finger C4H2-type containing [Source:HGN...
6399
6399
TRAPPC2
trafficking protein particle complex subunit...
6442
6442
SGCA
sarcoglycan alpha [Source:HGNC Symbol;Acc:HG...
7169
7169
TPM2
tropomyosin 2 [Source:HGNC Symbol;Acc:HGNC:1...
79158
79158
GNPTAB
N-acetylglucosamine-1-phosphate transferase ...
91461
91461
PKDCC
protein kinase domain containing, cytoplasmi...
9401
9401
RECQL4
RecQ like helicase 4 [Source:HGNC Symbol;Acc...
9427
9427
ECEL1
endothelin converting enzyme like 1 [Source:...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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