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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 **5676 - 5700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	ALOX12B STS	242 412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	ALOX12B STS	242 412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4535	hypotrichosis	ALOX12B GALNT3 GLB1 LSS PIGL PTGS2 SULT2B1 XYLT1	242 2591 2720 4047 5743 64131 6820 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1570	ectropion Aliases: Ectropion of eyelid Everted margin	ALOX12B CERS3 CYP1B1 GBA1 SULT2B1	1545 204219 242 2629 6820	Homo sapiens (human)	DisGeNET
DOID:0050428	nonepidermolytic palmoplantar keratoderma Aliases: Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR MMUT PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 4594 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11155	hypohidrosis Aliases: Oligohidrosis	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11156	anhidrosis Aliases: Adiaphoresis absence of sweating	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ALOX12B CD44 FCER2 PIGA PRSS8	2208 242 5277 5652 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9368	keratoconjunctivitis	ALOX12B ARSA CAT CD38 CERS3 CHI3L1 CLEC4E CLEC7A OLR1 PLA2G1B PLA2G2A PLA2G6 PLB1 PLD3 SIRT6 TLR2	1116 151056 204219 23646 242 26253 410 4973 51548 5319 5320 64581 7097 8398 847 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4677	keratitis	ALOX12B ARSA CAT CD38 CERS3 CHI3L1 CLEC4E CLEC7A OLR1 PLA2G1B PLA2G2A PLA2G6 PLB1 PLD3 SIRT6 TLR2 TLR4	1116 151056 204219 23646 242 26253 410 4973 51548 5319 5320 64581 7097 7099 8398 847 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	ALOX12 ENPP1	239 5167	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111005	cone-rod dystrophy 2 Aliases: CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2	ALOX12 CACNA2D4 CD38 CNTN3 CNTN6 CYP19A1 ELOVL4 GAL3ST1 H6PD HSD11B1 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RGMA SIGLEC7 SLC35A1 SOAT1	10559 1588 239 27036 27255 3290 3956 5067 5290 5291 5293 5294 56963 5728 6646 6785 93589 9514 952 9563	Homo sapiens (human)	DisGeNET
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	ALOX12 ALPP ATRNL1 PYGM RGN RPE	239 250 26033 5837 6120 9104	Homo sapiens (human)	DisGeNET
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	855502	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	ALG9 CIT1 CIT2 CIT3	850361 855502 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	ALG9 CHAT CNTN6 COMT ENO2 GPC5 HEXD HK1 HPGDS IL1R1 LCT LYPD6 OGA PARP1 PARP9 PKM	10724 1103 130574 1312 142 2026 2262 27255 27306 284004 3098 3554 3938 5315 79796 83666	Homo sapiens (human)	DisGeNET
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9 ATP6V0A2	23545 79796	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8	854233	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 GTB1 ROT2	851807 852530 854233	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8 MAN1A1	4121 79053	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9621	non-congenital cyst of kidney	ALG8 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 PRKCSH PTEN UGCG	1056 2271 2719 3292 3295 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 79053	Homo sapiens (human)	DisGeNET
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	ALG8 CD55 COG8 DGAT1 MPI PIK3C2A PTEN	1604 4351 5286 5728 79053 84342 8694	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 ALG9 GANAB LRP5 PKD1 PKD2 PRKCSH UCP2	23193 4041 5310 5311 5589 7351 79053 79796	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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