Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MYASTHENIC SYNDROME, CONGENITAL, 10	254300	DOK7	Unknown	—	HPO
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616326 C4225367	RAPSN	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 12	C3552335 610542	FAT1	Unknown	—	Disgenet
		GFPT1	Unknown	—	Disgenet HPO
		RYR1	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 13	614750 C3553645	DPAGT1	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 14	616228 C4015597	ALG2	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 15	616227 C4015596	ALG14	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 16	C3280112 614198	RANBP2	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 16	C3280112 614198	SCN4A	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 17	616304 C4225377	LRP4	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 18	C4225364	SNAP25	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 19	616720 C4225235	COL13A1	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	C4084823 601462	CAST	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	C4084823 601462	CHRNA1	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	608930 C4225405 MONDO:0012156	CHRNA1	Causal	—	ClinVar Disgenet GenCC HPO
		C17ORF107	Unknown	—	Disgenet
		CHRNE	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	C4310694 617143	SLC22A5	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	C4310694 617143	SLC5A7	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC	C4310654 617239	CHAT	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC	C4310654 617239	SLC18A3	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 22	616224 C4479088 MONDO:0044299	PREPL	Causal	24610330 28726805 29913539	ClinVar Disgenet HPO Orphanet
MYASTHENIC SYNDROME, CONGENITAL, 22	616224 C4479088 MONDO:0044299	SLC3A1	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	618197 C4748678 MONDO:0032596	SLC25A1	Causal	—	ClinVar Disgenet GenCC HPO
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198 C4748684 MONDO:0032597	MYO9A	Causal	—	ClinVar Disgenet GenCC HPO
MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC	618323 C5193027 MONDO:0032675	VAMP1	Causal	—	ClinVar Disgenet GenCC HPO
MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC	618323 C5193027 MONDO:0032675	TAPBPL	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	616313 C4225374	CHRNB1	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616314 C4225373	CHRNB1	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	616321 C4225372	CHRND	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	616322 C4225371	CHRND	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616323 C4225370	CHRND	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	C4225413 605809	C17ORF107	Unknown	—	Disgenet
		CHRNE	Unknown	—	Disgenet HPO
		MINK1	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	C4225369 616324	C17ORF107	Unknown	—	Disgenet
		CHRNE	Unknown	—	Disgenet HPO
		MINK1	Unknown	—	Disgenet
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	608931	CHRNE	Unknown	—	HPO
	608931	GFPT1	Unknown	—	HPO
MYASTHENIC SYNDROME, CONGENITAL, 5	603034	COLQ	Unknown	—	HPO
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC	254210	CHAT	Unknown	—	HPO
MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT	616040 C4015038	SYT2	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE	619461 C5561947 MONDO:0030341	SYT2	Causal	25192047 30533528 32250532 32776697	ClinVar Disgenet GWAS catalog HPO
MYASTHENIC SYNDROME, CONGENITAL, 8	615120 C3808739	AGRN	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	616325 C4225368	MUSK	Unknown	—	Disgenet HPO
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	C1837091	ASL	Unknown	—	Disgenet
		C17ORF107	Unknown	—	Disgenet
		CHAT	Unknown	—	Disgenet

Myasthenic syndrome