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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 **10926 - 10950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	AARS1 AARS2 CADM3 FBLN5 FGD3 FIG4 GSTT2B ITPR3 JAG1 MPZ MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 NARS1 NEFL NRG1 PMP22 POLR3B SGPL1 SLC12A6 TNFRSF11B YARS1	10516 16 182 3084 3710 4359 4534 4677 4747 4982 5376 55613 55703 57505 57863 653689 8565 8776 8879 8897 8898 89846 9107 9108 9110 9896 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070166	spermatogenic failure 20 Aliases: SPGF20	CFAP44	55779	Homo sapiens (human)	Alliance of Genome Resources
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	APOH CCL2 CLU EPO FLT1 HIF1A IL6 KDR NOS3 SERPINF1 VEGFA	1191 2056 2321 3091 350 3569 3791 4846 5176 6347 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:1040	chronic lymphocytic leukemia Aliases: B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia	AK3 CD40LG CD79B CD86 IL5 IRF4 MYC PON1 STAT3	3567 3662 4609 50808 5444 6774 942 959 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:110	lens disease	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	GGCX	2677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112149	terminal osseous dysplasia Aliases: ODPD ODPF syndrome TOD TODPD digital osseous dysplasia with facial pigmentary defects and multiple frenula terminal osseous dysplasia-pigmentary defects syndrome	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:7166	thyroiditis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:11382	corneal neovascularization	FLT1 IL1RN ITGAV MUC4 SERPINF1 TNFAIP6	2321 3557 3685 4585 5176 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	AGFG1 CFAP58 CFAP61 PPP4C SPATA20	159686 26074 3267 5531 64847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080804	cranioectodermal dysplasia 2	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090056	dystonia 12	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080691	Noonan syndrome-like disorder with loose anagen hair	SHOC2	8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	PLOD1	5351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050967	spinocerebellar ataxia type 17	TBP	6908	Homo sapiens (human)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ATAD5 KDR PECAM1 SERPINE1 SIX1 SNCA	3791 5054 5175 6495 6622 79915	Homo sapiens (human)	Alliance of Genome Resources

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