Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO DGAT2 MUTATION	487814 C5567515	DGAT2	Unknown	26786738	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO KIF5A MUTATION	324611 C4707173 MONDO:0017940	KIF5A	Unknown	21623771	Disgenet GWAS catalog Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO TFG MUTATION	435819 C5569028 MONDO:0018567	TFG	Unknown	25098539	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS	401964 C5190585	DCAF8	Unknown	24500646	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1	99946	KIF1B	Unknown	11389829 20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2	99947	MFN2	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B	99936	RAB7A	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C	99937	TRPV4	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D	99938	GARS1	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD	521414 99939	ATP1A1	Unknown	29499166	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD	521414 99939	NEFL	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F	99940	HSPB1	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I	99942	MPZ	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J	99943	MPZ	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K	99944 MONDO:0020558	GDAP1	Unknown	20301462	GWAS catalog Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2L	99945 C4304673	HSPB8	Unknown	20301462	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2M	228179 C4304672 MONDO:0016431	DNM2	Causal	17636067 18394888	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N	228174	AARS1	Unknown	20301462	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O	284232	DYNC1H1	Unknown	20301462 21820100	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Q	329258	DHTKD1	Unknown	23141294	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2U	397735	MARS1	Unknown	23729695	Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V	447964 C5569050	NAGLU	Unknown	25818867	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2W	488333 C5567486 MONDO:0014711	HARS1	Causal	26072516	ClinVar Disgenet GWAS catalog Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y	435387 C5569026	VCP	Unknown	25125609	Disgenet Orphanet
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z	466768 C5569025	MORC2	Unknown	26497905	Disgenet Orphanet
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B	100044	DNM2	Unknown	15731758 20614582	Orphanet
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C	100045	YARS1	Unknown	16429158	Orphanet
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D	100046	MPZ	Unknown	10406984	Orphanet
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E	93114 C4302667	INF2	Unknown	22187985	Disgenet Orphanet
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE F	352670 C4749463	GNB4	Unknown	23434117	Disgenet Orphanet
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN	C4755257 324585 MONDO:0017937	MPZ	Unknown	22704856	Disgenet
AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE DUE TO COPPER METABOLISM DEFECT	521411 C5569051 MONDO:0033850	SCO2	Unknown	29351582	CTD Disgenet Orphanet
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X	466775 C5569024	SPG11	Unknown	26556829	Disgenet Orphanet
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS	101097	GDAP1	Unknown	20301462	Orphanet
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A	217055 C4750774	GDAP1	Unknown	12499475 12566285	Disgenet Orphanet
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B	254334 C4750786	KARS1	Unknown	20920668	Orphanet
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C	369867 C4750846	PLEKHG5	Unknown	23777631 23844677	Disgenet Orphanet
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D	435998 C5569027	COX6A1	Unknown	25152455	Orphanet
CHARCOT-MARIE-TOOTH DISEASE	C0007959 MONDO:0015626PS118220	AARS1	Causal	—	ClinVar Disgenet
		ATL1	Causal	—	Disgenet
		ATP7A	Causal	—	ClinVar Disgenet
		BSCL2	Causal	—	Disgenet
		CTDP1	Causal	—	Disgenet
		DHX9	Causal	—	Disgenet
		DNAJB2	Causal	—	Disgenet
		DNM2	Causal	15731758 17636067 18394888 18560793 19502294 19623537 22091729 22096584 22451505 25259927 28971531 30648534 32129442	CTD ClinGen Disgenet
		DNMT1	Causal	—	Disgenet

«‹12 3 ›»

Charcot-marie-tooth disease