DisGeNET - a database of gene-disease associations

List of associated genes

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, C1837091

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
GFPT1	Q06210	glutamine--fructose-6-phosphate transaminase 1	Enzyme	0.90	0.612	0.654
CHRNE	Q04844	cholinergic receptor nicotinic epsilon subunit	Ion channel	4.7E-09	0.636	0.577
C17orf107	Q6ZR85	chromosome 17 open reading frame 107		6.9E-02	0.821	0.115