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Multiple pterygium syndrome, lethal type
Multiple pterygium syndrome, lethal type
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Subtype of:
Multiple pterygium syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
multiple pterygium syndrome lethal type
MONDO_0009668
CHRNA1
Unknown
16826520
16826531
18252226
20301347
30177536
36092864
Open Targets
Virion - Ebolavirus, Lyssavirus and Morbillivirus
Neuroactive ligand-receptor interaction
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
+1 more
CHRND
Unknown
16916845
20301347
16826520
18252226
16826531
Open Targets
Neuroactive ligand-receptor interaction
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Pterygium syndrome, multiple, lethal type
MONDO_0009668
CHRNG
Unknown
16826520
16826531
18252226
22167768
27843868
Open Targets
Neuroactive ligand-receptor interaction
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
3
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1 shared gene
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Related via 1 shared gene including CHRNG.
Multiple pterygium syndrome, nonlethal type
1 shared gene
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Related via 1 shared gene including CHRNG.
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1 shared gene
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Related via 1 shared gene including CHRND.
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1 shared gene
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Related via 1 shared gene including CHRND.
1
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