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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1876 - 1900** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V Aliases: CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V	NAGLU	4669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z Aliases: CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z	MORC2	22880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	NDRG1	10397	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110191	Charcot-Marie-Tooth disease type 4B1 Aliases: CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1	MTMR2	8898	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110192	Charcot-Marie-Tooth disease type 4H Aliases: CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	HK1	3098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	DNM1 DNM2	1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	GBF1	8729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B Aliases: CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B	KARS1	3735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F Aliases: CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F	GNB4	59345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5 Aliases: CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness	PRPS1 PRPSAP1	5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110213	isolated cleft palate	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110217	Leber congenital amaurosis 17 Aliases: LCA17	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1L	23171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources

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