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Escobar syndrome
Escobar syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Escobar syndrome
MONDO_0009926
CHRNG
Unknown
16826520
22167768
27843868
16826531
Open Targets
Neuroactive ligand-receptor interaction
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
TPM2
Unknown
22749895
17846275
19155175
23413262
Open Targets
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Motor proteins
Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Striated Muscle Contraction
Smooth Muscle Contraction
+5 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
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Hypo-akinesia disorder of prenatal onset
1 shared gene
CHRNG
Related via 1 shared gene including CHRNG.
Multiple pterygium syndrome, escobar variant
1 shared gene
CHRNG
Related via 1 shared gene including CHRNG.
Multiple pterygium syndrome, nonlethal type
1 shared gene
CHRNG
Related via 1 shared gene including CHRNG.
Nemaline myopathy 4, autosomal dominant
1 shared gene
TPM2
Related via 1 shared gene including TPM2.
Distal arthrogryposis type 2b
1 shared gene
TPM2
Related via 1 shared gene including TPM2.
1
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