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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 **8276 - 8300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ABCC1 ACE ADAM33 ADAM9 ADIPOQ ADRB1 ADRB2 AGER BAMBI BDKRB2 C3 C5 C5AR1 CAT CCL11 CCL1 CCL2 CCL5 CCL7 CCN2 CCR3 CCR5 CD28 CD40 CD80 CD86 CFTR CHI3L1 CHRM3 CHRNA3 CHRNA5 CHRNA7 CLCA1 CMA1 COL1A1 CRHR1 CSF2 CTLA4 CXCR2 CXCR3 CYP1A1 CYP1A2 CYP2E1 DEFB1 EDN1 EGFR EGR1 ELN ERBB3 F2 F2RL1 FAIM2 FAS FASLG FLT1 GC GRIK5 GRIN2B GZMA GZMB HDAC2 HHIP HLA-DPB1 HP HSPA4 HTR2A ICAM1 IL12B IL13 IL13RA1 IL16 IL17A IL18BP IL1RL1 IL1RN IL5 IL5RA IL6 IL9 KDR LEP LEPR LRP1B MAP2K4 MBL2 MCAM MMP1 MMP9 MPO MUC1 MUC5AC MUC5B NFE2L2 NOD2 NOS1 NOS2 NR3C1 NTF3 NTRK1 PLAU PLAUR PON1 PPARGC1A PTGS2 SELP SERPINA1 SERPINA3 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD SLC6A4 SMAD4 SMPD3 SOD3 STAT1 STAT4 TGFB1 TIMP1 TLR4 TNF TNFRSF1A TNFRSF1B VEGFA XRCC5	10068 1080 10891 1116 1131 1136 1138 1139 1179 12 1215 1232 1234 1277 1394 1437 1490 1493 153 154 1543 1544 1571 1636 1672 177 1906 1956 1958 2006 2065 2147 2150 23017 2321 25805 2638 2833 2901 2904 2908 3001 3002 3066 3115 3240 3308 3356 3383 355 3557 356 3567 3568 3569 3578 3579 3593 3596 3597 3603 3605 3791 3952 3953 4089 4153 4162 4312 4318 4353 4363 4582 4586 4780 4842 4843 4908 4914 5054 5265 5328 5329 53353 5444 55512 5743 624 6346 6347 6352 6354 6356 6403 64127 6416 6439 64399 6440 6441 6532 653509 6649 6772 6775 7040 7076 7099 7124 7132 7133 718 727 727897 728 7422 7520 80332 847 8754 9173 9370 940 941 942 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	CCL7 CD46 CEBPB DOCK8 EHMT1 EHMT2 IL15	1051 10919 3600 4179 6354 79813 81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	CAD CPS1	1373 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050746	mantle cell lymphoma	BTK CCDC50 CD79B TNFRSF10A	152137 695 8797 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:5723	optic atrophy Aliases: atrophy of optic disc	FDXR MCAT MECR OPA1 SSBP1 WFS1	2232 27349 4976 51102 6742 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	ALX4 DNMT1 EGFR EGR1 KRAS TP53	1786 1956 1958 3845 60529 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081440	Peroxisome biogenesis disorder 10B	PEX3	8504	Homo sapiens (human)	Alliance of Genome Resources
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	GHRL HTR2C MAGEL2	3358 51738 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	SLC19A3	80704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070354	cataract 48 Aliases: CTRCT48	DNMBP TIAM1 TIAM2	23268 26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:10123	pigmentation disease	ASIP ELN HERC2 IRF4 KITLG MC1R MMP9 OCA2 SLC24A4 SLC45A2 TPCN2 TYR TYRP1	123041 2006 219931 3662 4157 4254 4318 434 4948 51151 7299 7306 8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	ANKRD11	29123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	NECAP1	25977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	ACOT12 ADAM28 CES1 CHUK IKBKB IL10 MRE11 PCNA POLE SETD2 SLCO1B1 SLCO2B1 XRCC1	10599 1066 10863 11309 1147 134526 29072 3551 3586 4361 5111 5426 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)	Alliance of Genome Resources
DOID:11257	social phobia	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ACE AGER AGT AGTR1 ANK2 CAND2 CD36 CD40 EDN1 FLT1 GP6 HGF HIF1A IL2 ITGAM KCNE1 KCNE2 KCNJ5 KCNQ1 MMP1 MMP2 MMP3 MMP9 RBM20 REN ROBO1 SLC8A1 SLIT2 SOD1 TFPI TGFB1 TLR2 TNF TTN VEGFA VWF	1636 177 183 185 1906 23066 2321 282996 287 3082 3091 3558 3684 3753 3762 3784 4312 4313 4314 4318 51206 5972 6091 6546 6647 7035 7040 7097 7124 7273 7422 7450 9353 948 958 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070397	hypomyelinating leukodystrophy 23 Aliases: HLD23	RNF220	55182	Homo sapiens (human)	Alliance of Genome Resources
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	APOH CCL5 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 PLAT PROC	3117 3119 3123 350 5327 5624 6352 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111887	Diamond-blackfan anemia 3 Aliases: DBA3 RPS24-related Diamond-Blackfan anemia	RPS24	6229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	CHL1 L1CAM NFASC NRCAM TRPM1 TRPM3	10752 23114 3897 4308 4897 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources

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