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Multisystemic smooth muscle dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
multisystemic smooth muscle dysfunction syndrome
MONDO_0013452
ACTA2
Causal
17994018
20734336
20970362
26888179
27481187
29300374
33729000
ClinGen
,
Open Targets
Vascular smooth muscle contraction
Apelin signaling pathway
Motor proteins
Relaxin signaling pathway
Smooth Muscle Contraction
NOTCH4 Intracellular Domain Regulates Transcription
+3 more
COL5A2
Unknown
26188975
29543232
28868310
Open Targets
Cytoskeleton in muscle cells
Protein digestion and absorption
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
+10 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
2
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1 shared gene
ACTA2
Related via 1 shared gene including ACTA2.
Urethral obstruction
1 shared gene
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Related via 1 shared gene including ACTA2.
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1 shared gene
ACTA2
Related via 1 shared gene including ACTA2.
1
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