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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 **13351 - 13375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	BCOR HLA-DQB1	3119 54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	BCL9 BCL9L	283149 607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111979	immunodeficiency 49 Aliases: IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities	BCL11B	64919	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060038	specific developmental disorder	BCL11A BCL11B FOXP1 FOXP2 FOXP4	116113 27086 53335 64919 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB DBT DLD	1629 1738 593 594	Homo sapiens (human)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	BCHE GPHN HSD11B2 LIG1 MMAB NDUFS1 SLC22A5 SLC25A19	10243 326625 3291 3978 4719 590 60386 6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:9505	cannabis abuse Aliases: marijuana abuse	BCHE COMT DRD4 NGF NRG1	1312 1815 3084 4803 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:4247	coronary restenosis	BCHE CDH13 CXCR3 ITGB2 LOX MBL2 MYC NPY5R SPP1 TNF TP53 UCP3	1012 2833 3689 4015 4153 4609 4889 590 6696 7124 7157 7352	Homo sapiens (human)	Alliance of Genome Resources
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	BCHE BDNF CREB1 DRD3 HRH3 HTR7 IRS1 IRS2 IRS4 MAPT	11255 1385 1814 3363 3667 4137 590 627 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	BCAR1 BSG CD44 RICTOR SLCO1B3 TNFRSF10A XIAP	253260 28234 331 682 8797 9564 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	BBS9	27241	Homo sapiens (human)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110401	retinitis pigmentosa 74 Aliases: RP74	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	BBS2 BBS9 CEP131 SCAPER TBC1D32 TMEM67 TTC8	123016 221322 22994 27241 49855 583 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	BAZ1B BUD23 CLIP2 EIF4H ELN FZD3 FZD9 GTF2I LIMK2 LOX NOP2 NSUN5 SRC	114049 2006 2969 3985 4015 4839 55695 6714 7458 7461 7976 8326 9031	Homo sapiens (human)	Alliance of Genome Resources
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:7166	thyroiditis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	BAX FADD FAS LEP LPL	355 3952 4023 581 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	BAX FADD FAS FASLG FOXA1 GAPDH KDR PTPRB VEGFA XRCC1	2597 3169 355 356 3791 5787 581 7422 7515 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	BAX CTNNB1 NME1 NME2 PGM1 PGM3 TERT TYMP WNT2B	1499 1890 4830 4831 5236 5238 581 7015 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	BAX CASP9 CAT CD209 CHI3L1 DAG1 EDN1 EPAS1 FLT1 HIF1A IL1RN MBL2 MIF MUC1 SERPINE1 SFTPA1 SFTPB SFTPD TNF TP53	1116 1605 1906 2034 2321 30835 3091 3557 4153 4282 4582 5054 581 6439 6441 653509 7124 7157 842 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:5295	intestinal disease	BAX BMPR1A MUC2 NOD2 SLC10A2 SOD2	4583 581 64127 6555 657 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:3495	extrahepatic bile duct adenocarcinoma Aliases: adenocarcinoma of extrahepatic bile duct	BAP1 PBRM1 RAC1 SLC7A5	55193 5879 8140 8314	Homo sapiens (human)	Alliance of Genome Resources

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