Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 1	MONDO:0010549	GJB1	Causal	10220155 10938190 15703409 19369543 8613761 8737658 8816997	ClinGen ClinVar GenCC
CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 6	MONDO:0010479	PDK3	Causal	23297365 26801680 27388934 32504000 34387338	ClinGen ClinVar GWAS catalog
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 4	MONDO:0010689	AIFM1	Causal	23217327 30031633 36907087	ClinVar GWAS catalog
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 5	MONDO:0010699	PRPS1	Causal	17701900 17701896 8498830 22246954	ClinVar GWAS catalog
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1	302800	GJB1	Unknown	—	HPO
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6	300905 C3806702	PDK3	Unknown	—	Disgenet HPO
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA	310490	AIFM1	Unknown	—	HPO
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5	311070 C1839566	PRPS1	Unknown	—	Disgenet HPO
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1	C0393808 MESH:C535919	DNAJB2	Unknown	—	Disgenet
		DRP2	Unknown	—	Disgenet
		GJB1	Unknown	—	CTD Disgenet
		SACS	Unknown	—	Disgenet
		SBF1	Unknown	—	Disgenet
CHARCOT-MARIE-TOOTH NEUROPATHY X		GJB1	Causal	—	ClinVar
CHARCOT-MARIE-TOOTH NEUROPATHY X		PRPS1	Causal	—	ClinVar
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	101075	GJB1	Unknown	—	Orphanet
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4	101078	AIFM1	Unknown	20301605	Orphanet
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5	99014	PRPS1	Unknown	20301491	Orphanet
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6	352675	PDK3	Unknown	—	Orphanet

Charcot-marie-tooth disease, x-linked