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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 **5201 - 5225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050642	hypochromic microcytic anemia	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	CEACAM5 CEACAM7 CHPT1 DHDDS	1048 1087 56994 79947	Homo sapiens (human)	DisGeNET
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL6A1 DAG1 FKRP HSPG2	1291 1605 3339 79147	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	PNPLA6 XYLT1	10908 64131	Homo sapiens (human)	DisGeNET
DOID:9931	Waterhouse-Friderichsen syndrome Aliases: Meningococcal hemorrhagic adrenalitis	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 6523 9197 9469 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5132	leiomyoma cutis Aliases: Cutaneous leiomyoma leiomyoma of the skin	FH	2271	Homo sapiens (human)	DisGeNET
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	29929	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)	DisGeNET
DOID:0060432	chromosome 17p13.3 duplication syndrome Aliases: 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3	PAFAH1B1	5048	Homo sapiens (human)	DisGeNET
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	AKR1C4 ALDH2 CALR CD38 CD55 CHPT1 CNTN3 COG1 CYP2B6 DGCR2 DHDDS FREM1 G6PD GAS1 GYS2 IDUA LGALS1 LSS NT5E PARP1 SLC26A2	1109 142 1555 158326 1604 1836 217 2539 2619 2998 3425 3956 4047 4907 5067 56994 79947 811 9382 952 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0040091	autoimmune pancreatitis	ALPI ALPP AMY2A ENO1 PKD1 SMUG1	2023 23583 248 250 279 5310	Homo sapiens (human)	DisGeNET
DOID:4562	subacute bacterial endocarditis Aliases: Endocarditis lenta SBE - Subacute bacterial endocarditis Subacute endocarditis, lenta	ACE AGXT ARSD CAT CHPT1 CLEC16A DHDDS ENO1 GPI GPX1 ICAM1 MANEA MTM1 PCYT1A PTGS2 SIGLEC6 SMUG1	1636 189 2023 23274 23583 2821 2876 3383 414 4534 5130 56994 5743 79694 79947 847 946	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)	DisGeNET
DOID:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)	DisGeNET
DOID:841	extrinsic allergic alveolitis Aliases: alveolitis hypersensitivity pneumonitis	ACE ATP6AP2 CEL CHI3L1 CYP2E1 LGALS9 PARP9 SFTPA1 SLC27A5 TNF	10159 1056 10998 1116 1571 1636 3965 653509 7124 83666	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1508	candidiasis Aliases: Disseminated candidiasis systemic candidiasis	ADH1A AKR1A1 CLEC6A CLEC7A CYP51A1 ENO1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT7 FUT9 INPP5D LGALS3 LYZ MBL2 PLB1 PLCG1 PLCG2 PLD1 PSAP SRGN TMEM199	10327 10690 124 147007 151056 1595 2023 2524 2525 2526 2527 2528 2529 3635 3958 4069 4153 5335 5336 5337 5552 5660 64581 93978	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1064	cystinosis Aliases: cystine storage disease	AGPAT2 APRT CTNS CYP51A1 EHHADH GPX3 LGALS3 NAGLU OCRL PRKAA2 SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 353 3958 4669 4952 5563 6514 6523 8875 8876	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	EBP IDUA	10682 3425	Homo sapiens (human)	DisGeNET
DOID:4737	somatoform disorder Aliases: physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder	ACE COMT	1312 1636	Homo sapiens (human)	DisGeNET

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