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Abnormal muscle tone
Abnormal muscle tone
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Abnormal muscle tone
HP:0003808
CACNA2D1
Unknown
28097321
35293990
34356170
Open Targets
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Presynaptic depolarization and calcium channel opening
Phase 0 - rapid depolarisation
Phase 2 - plateau phase
+7 more
CHKA
Unknown
35202461
Open Targets
Glycerophospholipid metabolism
Metabolic pathways
Choline metabolism in cancer
Synthesis of PC
Synthesis of PE
+2 more
DHPS
Unknown
21850436
21389784
30661771
Open Targets
Hypusine synthesis from eIF5A-lysine
UFSP2
Unknown
33473208
Open Targets
—
All
4
Causal
0
Unknown
4
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
4
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Related via 2 shared genes including CACNA2D1, CHKA.
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1 shared gene
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Related via 1 shared gene including CHKA.
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1 shared gene
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Related via 1 shared gene including UFSP2.
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1 shared gene
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Related via 1 shared gene including UFSP2.
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1 shared gene
UFSP2
Related via 1 shared gene including UFSP2.
1
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