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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3926 - 3950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0080488	mucolipidosis	Gnptab Neu1	18010 432486	Mus musculus (house mouse)
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	Gnptg Neu1	18010 214505	Mus musculus (house mouse)
DOID:9957	periostitis	DPEP1	1800	Homo sapiens (human)
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)
DOID:0060178	familial hemiplegic migraine	ATP1A2 DPEP1 PMM2 PRKCSH	1800 477 5373 5589	Homo sapiens (human)
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	DPEP1 LGALS1 TBXAS1 TMEM165	1800 3956 55858 6916	Homo sapiens (human)
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)
DOID:13677	SAPHO syndrome Aliases: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome	DPEP1 LPIN2 SMUG1	1800 23583 9663	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)
DOID:0050562	West syndrome	ABAT ALG13 CACNA2D1 HIBCH HSD17B4 NGLY1 PAFAH1B1 PDHA1 PIGA PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 ST3GAL3	18 23236 26275 284098 3295 5048 51227 5160 5277 5373 55768 6487 7355 781 79868 9091 91869	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	H12D21.10	179990	Caenorhabditis elegans
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	algn-13	179890	Caenorhabditis elegans
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)
DOID:1143	exotropia Aliases: Divergent Strabismus Divergent concomitant strabismus	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:11853	monocular exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:1142	alternating exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	CAT CLEC7A DPAGT1 FCN2 FDPS FH G6PD PGD PNP SLC5A1 TLR2 TLR4 TNF	1798 2220 2224 2271 2539 4860 5226 64581 6523 7097 7099 7124 847	Homo sapiens (human)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	dhs-21	179741	Caenorhabditis elegans
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	ogdh-2	179674	Caenorhabditis elegans
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	ogdh-2	179674	Caenorhabditis elegans
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	gly-20	179562	Caenorhabditis elegans

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