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Standards Ontologies Notations
spinal muscular atrophy

Summary
Definition
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
Super Class
motor neuron disease
Disease Ontology
DOID:12377
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
367 AR androgen receptor
538 ATP7A ATPase copper transporting alpha
540 ATP7B ATPase copper transporting beta
1804 DPP6 dipeptidyl peptidase like 6
3074 HEXB hexosaminidase subunit beta
3799 KIF5B kinesin family member 5B
9217 VAPB VAMP associated protein B and C
Displaying all 4 entries
Gene ID Gene Symbol Description Source
11977 Atp7a ATPase, copper transporting, alpha polypeptide
13483 Dpp6 dipeptidylpeptidase 6
15212 Hexb hexosaminidase B
16573 Kif5b kinesin family member 5B
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24941 Atp7a ATPase copper transporting alpha
29272 Dpp6 dipeptidyl peptidase like 6
294673 Hexb hexosaminidase subunit beta
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31808 Hexo2 Hexosaminidase 2
38528 Hexo1 Hexosaminidase 1
250735 fdl fused lobes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
180042 dpf-1 Dipeptidyl peptidase family member 1
180533 hex-1 Beta-hexosaminidase A
Displaying 1 entry
Gene ID Gene Symbol Description Source
854394 STE13 Ste13p
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024