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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 **3751 - 3775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:9974	drug dependence	ABCB1 ACHE COMT CREB1 CYP2B6 NCAM1 OPRM1	1312 1385 1555 43 4684 4988 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	SKIC3	9652	Homo sapiens (human)	Alliance of Genome Resources
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	EPX HLA-B HLA-C HLA-DPA1 HLA-DPB1 HLA-DRB1	3106 3107 3113 3115 3123 8288	Homo sapiens (human)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE ACHE ADIPOQ ADRB1 AGER ALDH2 AOC3 APOA1 APOA2 APOB APOC3 APOE APOM AVP BCHE BTC C3 CASP9 CBL CCL11 CCL2 CCL5 CCR2 CCR5 CD14 CD28 CD38 CD40 CD40LG CD80 CD86 CEL CFB CHI3L1 CLEC16A CP CTLA4 CYP27B1 CYP2E1 CYP2R1 DOCK8 E2F1 EDN1 EGFR EIF2AK3 F7 FADS2 FAS FASLG FUCA1 G6PC2 G6PD GAD2 GAL GC GH2 GHR GPX3 HDAC1 HDAC2 HDAC3 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HP HPR HSD11B2 ICAM1 IFNG IFNGR2 IGF2 IGF2R IGFBP3 IL10 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL4 IL6 INS IRAK3 ITPR3 LGALS3 LIPC LTA MBL2 NCAM1 NOS2 NOTCH4 PDX1 PLAT PON1 PRF1 PRRC2A PRSS1 PTPRN2 PTPRN REG1A SELE SELL SENP1 SERPINA7 SERPINF1 SLC11A1 SLC18A2 SOD1 SOD2 SREBF2 STAT4 TAP1 TBP TF TGFB1 THBD TIMP1 TLR2 TLR3 TLR4 TNF TNFSF4 UGT1A1 VAV1 VCAM1 VWF WFS1 XYLT1 YY1	1056 1116 11213 120227 1234 1356 1493 153 1571 1594 1636 177 1869 1906 1956 2155 217 23274 2517 2539 2572 2638 2689 2690 2878 29843 3065 3066 3113 3115 3117 3119 3123 3240 3250 3291 335 336 338 3383 345 3458 3460 348 3481 3482 3486 355 3552 3554 3557 3558 3559 356 3565 3569 3586 3600 3630 3651 3710 3958 3990 4049 4153 43 4684 4843 4855 51083 5176 5327 5444 54658 551 5551 55937 5644 57818 5798 5799 590 5967 629 6347 6352 6356 6401 6402 64131 6556 6571 6647 6648 6721 6775 685 6890 6906 6908 6927 7018 7040 7056 7076 7097 7098 7099 7124 718 7292 729230 7409 7412 7450 7466 7528 7916 81704 842 8639 867 8841 929 9370 940 941 9415 942 9451 952 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:401	multidrug-resistant tuberculosis	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	CXCR4	7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110264	cataract 33 Aliases: CTRCT33	BFSP1	631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	RBP3	5949	Homo sapiens (human)	Alliance of Genome Resources
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	TRAF7	84231	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	SGCD SGCG SGCZ	137868 6444 6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z Aliases: CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z	MORC2	22880	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ACVR2A ACVR2B BMP2 BMP4 BMP6 BMP7 FBN1 MATN3 MMP12 MMP14 MMP2 TGFBR2	2200 4148 4313 4321 4323 650 652 654 655 7048 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	WNT1	7471	Homo sapiens (human)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ARID1A BAP1 FAS FASLG HSP90AA1 HSP90AB1 IDH1 IDH2 KRAS LCN2 LRP1B PBRM1 PTEN RNF43 RUNX1 SMAD4 TEP1	3320 3326 3417 3418 355 356 3845 3934 4089 53353 54894 55193 5728 7011 8289 8314 861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	EFEMP2 SLC2A10	30008 81031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070409	autosomal recessive spinocerebellar ataxia 28 Aliases: SCAR28	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111998	immunodeficiency 66 Aliases: IMD66	MRTFA	57591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	SPTB SPTBN1 SPTBN2 SPTBN4	57731 6710 6711 6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SMARCA2	6595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111474	combined oxidative phosphorylation deficiency 1 Aliases: COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GFM1	85476	Homo sapiens (human)	Alliance of Genome Resources

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