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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 **15001 - 15025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	BAP1 CHRNA7 EZH2 FMR1 FXR1 FXR2 IL7R KDM6A MLH1 NCOA2 SETD2 SLC7A5 SMO	10499 1139 2146 2332 29072 3575 4292 6608 7403 8087 8140 8314 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050861	colorectal adenocarcinoma	ABCB1 BRD8 CA12 CD44 CYP24A1 CYP4F8 DOK3 ERBB3 ERCC6 EZH2 FAM151A FGFR2 FLT3 FOS GSK3B IL16 JUN JUNB KCNH1 KDR KMT2B MYD88 NCOA2 NOD2 PCSK4 RAF1 RICTOR RNASET2 RUNX1 SLC7A5 SMARCB1 STAT5B STRA6 TP53 TPST1 TYMS XRCC1 YME1L1	10499 10730 10902 11283 1591 2065 2074 2146 2263 2322 2353 253260 2932 338094 3603 3725 3726 3756 3791 4615 5243 54760 5894 64127 64220 6598 6777 7157 7298 7515 771 79930 8140 8460 861 8635 960 9757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	Homo sapiens (human)	Alliance of Genome Resources
DOID:12918	thromboangiitis obliterans Aliases: Buerger's disease Presenile gangrene	AGER CRHR1 ELN HLA-A HLA-DRB1 LINC02210-CRHR1 VCAM1	104909134 1394 177 2006 3105 3123 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:3877	functional colonic disease	CRHR1 CRHR2 LINC02210-CRHR1	104909134 1394 1395	Homo sapiens (human)	Alliance of Genome Resources
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	BDNF CLDN1 CRHR1 CRHR2 EFNB2 EPHB2 FOS GDNF HTR3A HTR7 LINC02210-CRHR1 MLXIPL NOS3 PDIA3 RNF43	104909134 1394 1395 1948 2048 2353 2668 2923 3359 3363 4846 51085 54894 627 9076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	CRHR1 DNMT1 DRD2 EHMT2 GABRB3 GABRG2 GRIN2B HDAC2 HDAC4 HSD11B2 IGF1R LINC02210-CRHR1 MAT2A MECP2 MTR NR3C1 NR3C2 OPRK1 OPRL1 PER2 POMC PRL PTEN RASGRF1 SETD7 SLC25A12 SLC6A4 UBE3A	104909134 10919 1394 1786 1813 2562 2566 2904 2908 3066 3291 3480 4144 4204 4306 4548 4986 4987 5443 5617 5728 5923 6532 7337 80854 8604 8864 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	SEC23B	10483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111397	congenital dyserythropoietic anemia type Ib Aliases: CDA, type Ib CDAN1B	SEC23B	10483	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:0111399	congenital dyserythropoietic anemia type III Aliases: CDA III CDA type 3 CDA type III CDAN3 Congenital dyserythropoietic anaemia type 3 Congenital dyserythropoietic anemia type 3 anaemia with multinucleated erythroblasts anemia with multinucleated erythroblasts congenital dyserythropoietic anaemia type III hereditary benign erythroreticulosis	KIF23 SEC23B	10483 9493	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CDAN1 DIAPH3 MAN2A1 RACGAP1 SEC23B	10483 146059 29127 4124 81624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	SEC23A SEC23B	10483 10484	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070307	craniolenticulosutural dysplasia Aliases: Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD	SEC23A SEC23B	10483 10484	Homo sapiens (human)	Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	ESCO1 ESCO2 SEC23A SEC23B	10483 10484 114799 157570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	SLC9A6	10479	Homo sapiens (human)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	Adamts13 Ager Atg7 C1qa C2 C3 C4b Cast Ccl2 Ccr5 Cd40 Cd40lg Cd46 Cd80 Cfh Cfhr4 Chaf1a Clu Ctla4 Cxcr2 Cybb Cyp1a1 Def6 Dnase1 Dnmt1 Ep300 Epor Esr2 F2 Fas Fcgr2b Fcgr3 Fcgr4 H2-Ab1 H2-Eb1 Hspa1a Hspa1l Hspd1 Ifng Il10 Il13 Il17a Il1rn Il21 Il21r Il23r Il2 Il5 Irf5 Klkb1 Lbr Ldlr Lyn Man2a1 Mbl2 Mki67 Mmp1a P2ry12 Pdcd1 Pgf Pld4 Pparg Ppp2r2b Prf1 Ptprc Rpl12 Rxra Sell Sftpd Slc11a1 Snrpd3 Sod2 Tab2 Tab3 Tfpi Thbd Timd4 Tlr5 Tlr7 Tlr9 Tnf Tnfrsf1a Tnfrsf1b Vcam1 Vim	104759 11596 12259 12263 12266 12268 12380 12477 12519 12628 12759 12765 12774 13058 13076 13419 13433 13857 13983 14061 14102 14130 14131 14961 14969 15482 15510 15978 16153 16163 16171 16181 16183 16191 16621 16835 170743 17096 17158 17195 17221 17345 18173 18566 18646 18654 19016 19264 193740 20181 20296 20343 20390 20656 209590 214403 21788 21824 21926 21937 21938 21939 21947 22329 22352 23853 246256 269261 27056 27221 276891 279028 328572 53791 60504 60505 66724 67332 68652 70839 72930 74244 81897 83995 98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8161	thyroid gland Hurthle cell carcinoma Aliases: oncocytic carcinoma of the thyroid	TIMM44	10469	Homo sapiens (human)	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	ADIPOQ AGER BCOR CALD1 CALU CAT CCL2 CCN1 COL5A2 COL6A3 CORO1C ENPP2 FLT1 IL6R PDGFB PPARG PTPN1 RBP4 SERPINE1 SERPINF1 SLIT2 SRSF6 TIMM44 VEGFA	10469 1290 1293 177 2321 23603 3491 3570 5054 5155 5168 5176 5468 54880 5770 5950 6347 6431 7422 800 813 847 9353 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	FST	10468	Homo sapiens (human)	Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ADIPOQ ADRA1A ADRA1B ADRA1D ADRB2 ADRB3 AKR1C3 AKT2 AMH AR ATP5F1B CAPN10 CD36 COMT CYP17A1 CYP19A1 CYP1A1 FST GPX3 HSD17B7 HSD3B1 HSD3B2 MMP2 NCOA2 NCOA4 NCOR1 NGFR NR3C1 NR3C2 PECAM1 PGR RARRES2 SERPINE1 VEGFA	10468 10499 11132 1312 146 147 148 154 1543 155 1586 1588 208 268 2878 2908 3283 3284 367 4306 4313 4804 5054 506 51478 5175 5241 5919 7422 8031 8644 9370 948 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	MERTK	10461	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ABCA4 BARD1 BAX BDNF C3 CARD9 CFB CFH CLU CS DMD EYS FCGR1A HDAC4 HGF INHBA KCNH8 LCN2 MERTK NOS3 OTX1 OTX2 PARK7 PDE6B PDHA1 PDHA2 PKD2 PLCB4 PROM1 PROM2 PRPH2 PTPRC RAB6A SERPINF1 SH3RF1 TFPI2 VDAC1 VDAC2 VDAC3	10461 11315 1191 131096 1431 150696 1756 2209 24 3075 3082 346007 3624 3934 4846 5013 5015 5158 5160 5161 5176 5311 5332 57630 5788 580 581 5870 5961 627 629 64170 718 7416 7417 7419 7980 8842 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources

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