DisGeNET - a database of gene-disease associations

List of associated genes

Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency, C1837092

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Protein Class

Gene	Uniprot	Gene Full Name	Protein Class	pLI	DSI _v	DPI _v
MUSK	O15146	muscle associated receptor tyrosine kinase	Kinase	4.2E-08	0.570	0.769
RAPSN	Q13702	receptor associated protein of the synapse		1.5E-03	0.593	0.731
CHRND	Q07001	cholinergic receptor nicotinic delta subunit	Ion channel	5.4E-09	0.641	0.462
CHRNB1	P11230	cholinergic receptor nicotinic beta 1 subunit	Ion channel	5.0E-08	0.700	0.462