Charcot-marie-tooth disease, x-linked | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 1	MONDO:0010549	GJB1	Causal	10220155 10938190 15703409 19369543 8613761 8737658 8816997	ClinGen, ClinVar, GenCC	Oligomerization of connexins into connexons Gap junction assembly
CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 6	MONDO:0010479	PDK3	Causal	23297365 26801680 27388934 32504000 34387338	ClinGen, ClinVar, GWAS catalog	Diabetic cardiomyopathy Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 4	MONDO:0010689	AIFM1	Causal	23217327 30031633 36907087	ClinVar, GWAS catalog	Apoptosis Necroptosis
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 5	MONDO:0010699	PRPS1	Causal	17701900 17701896 8498830 22246954	ClinVar, GWAS catalog	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1	302800	GJB1	Unknown	—	HPO	Oligomerization of connexins into connexons Gap junction assembly
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6	300905 C3806702	PDK3	Unknown	—	Disgenet, HPO	Diabetic cardiomyopathy Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA	310490	AIFM1	Unknown	—	HPO	Apoptosis Necroptosis
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5	311070 C1839566	PRPS1	Unknown	—	Disgenet, HPO	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1	C0393808 MESH:C535919	DNAJB2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
		DRP2	Unknown	—	Disgenet	—
		GJB1	Unknown	—	CTD, Disgenet	Oligomerization of connexins into connexons Gap junction assembly
		SACS	Unknown	—	Disgenet	—
		SBF1	Unknown	—	Disgenet	Synthesis of PIPs at the ER membrane RAB GEFs exchange GTP for GDP on RABs
CHARCOT-MARIE-TOOTH NEUROPATHY X		GJB1	Causal	—	ClinVar	Oligomerization of connexins into connexons Gap junction assembly
CHARCOT-MARIE-TOOTH NEUROPATHY X		PRPS1	Causal	—	ClinVar	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	101075	GJB1	Unknown	—	Orphanet	Oligomerization of connexins into connexons Gap junction assembly
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4	101078	AIFM1	Unknown	20301605	Orphanet	Apoptosis Necroptosis
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5	99014	PRPS1	Unknown	20301491	Orphanet	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6	352675	PDK3	Unknown	—	Orphanet	Diabetic cardiomyopathy Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid