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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 **8626 - 8650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:11520	benign hypertensive renal disease Aliases: hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations Aliases: MCPH2	MAPKBP1 WDR62	23005 284403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111127	nephronophthisis 20 Aliases: NPHP20	MAPKBP1	23005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112243	congenital symmetric circumferential skin creases 2 Aliases: CSCSC2	MAPRE2	10982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	MARK2 MARK3	2011 4140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070454	hereditary spastic paraplegia 70 Aliases: SPG70 autosomal recessive spastic paraplegia 70	MARS1	4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U Aliases: CMT2U Charcot-Marie-Tooth neuropathy type 2U autosomal dominant Charcot-Marie-Tooth disease type 2U autosomal dominant axonal Charcot-Marie-Tooth disease type 2U	MARS1	4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111468	combined oxidative phosphorylation deficiency 25 Aliases: COXPD25	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	MASP1	5648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	MAST1	22983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	MAST3	23031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070299	multiple epiphyseal dysplasia 5 Aliases: BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related	MATN3	4148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060212	amyotrophic lateral sclerosis type 21 Aliases: ALS21	MATR3	9782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	MBL2 TLR5	4153 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:1733	cryptosporidiosis Aliases: Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:2272	vulvovaginal candidiasis Aliases: Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:3385	bacterial vaginosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050759	myotonic dystrophy type 2	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:450	myotonic disease	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081219	autosomal recessive intellectual developmental disorder 57	MBOAT7	79143	Homo sapiens (human)	Alliance of Genome Resources

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