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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 **4251 - 4275** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	AFF4 AGT BRCA2 CCL2 CD40 CHAF1B CTCF DDR1 FANCD2 GRM1 HIF1A ICAM1 MMP1 MMP2 MMP9 OCA2 PDCD4 STAT3 TYR	10664 183 2177 27125 27250 2911 3091 3383 4312 4313 4318 4948 6347 675 6774 7299 780 8208 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	CTCF DDX5 KNSTRN	10664 1655 90417	Homo sapiens (human)	Alliance of Genome Resources
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	BAP1 CRNKL1 CTCF CTLA4 OCA2 OGG1 PTCH1 PTCH2 RASA1 SHH SMO TP53 XRCC5 XRCC6	10664 1493 2547 4948 4968 51340 5727 5921 6469 6608 7157 7520 8314 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	ATM CHEK2 CTCF MAST1 PALB2 POLH	10664 11200 22983 472 5429 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACE ADAMTS13 AGER AGT ANXA5 BDNF C3 CCL2 CCR6 CD86 CFB CHI3L1 CLU COL1A1 COL3A1 CP CSF1 CX3CL1 CXCL16 CXCR3 CXCR6 EDN1 ELN ESR1 F11R F2 FBN1 FLI1 FLT4 FOSL2 GPX3 HGF HLA-DQA1 HMGB1 ICAM1 IFNG IGFBP3 IL13 IL13RA1 IL17A IL1R1 IL23R IL27RA IL2 IL4 IL6 JAM3 KDR LTA MMP1 MMP3 MMP9 MUC1 NGF NOTCH4 PECAM1 PTGS2 RBP4 SELENOP SERPINE1 SERPINF2 SLC11A1 STAT4 TGFBR1 VEGFA VWF	10663 11093 1116 1191 1235 1277 1281 1356 1435 149233 1636 177 183 1906 2006 2099 2147 2200 2313 2324 2355 2833 2878 308 3082 3117 3146 3383 3458 3486 3554 3558 3565 3569 3596 3597 3605 3791 4049 4312 4314 4318 4582 4803 4855 5054 50848 5175 5345 5743 58191 5950 627 629 6347 6376 6414 6556 6775 7046 718 7422 7450 83700 942 9466	Homo sapiens (human)	Alliance of Genome Resources
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	CES1 SMAD4	1066 4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070383	developmental and epileptic encephalopathy 97 Aliases: DEE97 early infantile epileptic encephalopathy 97	CELF2	10659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	SPINT2	10653	Homo sapiens (human)	Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADD3 ADIPOQ CD14 DLK1 GGT1 GLI2 ICAM1 PTEN SHH SPINT1 SPINT2 SPP1 TGFB1	10653 120 2678 2736 3383 5728 6469 6692 6696 7040 8788 929 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060158	acquired metabolic disease	IGF2BP1 IGF2BP3 PNPLA2 PNPLA3	10642 10643 57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110595	Stromme syndrome Aliases: CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31	CENPF	1063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:971	tendinitis	CCN2 FMOD LRP5 MMP1 POSTN	10631 1490 2331 4041 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ABCA1 ABCB1 ABCC2 ABCC3 ABCG1 ACAT1 ACE ADIPOQ ADRB2 AGER AGTR2 ALB APOA1 APOC2 APOC3 APOE BDKRB1 C6 CASR CAT CCL2 CCL5 CCR5 CD2AP CD40 CD40LG CFB CHGA COL1A1 COL3A1 COL4A3 COL4A4 CPT1A CSF1 CTLA4 CXCR1 CXCR2 CYBB CYP1A1 CYP2C18 CYP2C8 CYP3A5 DRD1 DRD2 EDN1 ENPP1 EPOR F2 F5 FCGR2B FGB FN1 GHRL GLO1 GTPBP4 HMGCR ICAM1 IL1A IL1RN IL20 IRS1 ITGA8 ITGB3 KEAP1 KL KLK1 LCAT LCN2 LEP LIPC LPIN1 LPL LRP2 MBL2 MLXIPL MMP1 MMP2 MMP3 MPO MTOR MYH9 NGF NOS1 NOS3 NPHS1 NPPB NPPC NR3C1 OLR1 PGF PLA2G7 PLAU PLAUR POSTN PPARG PTGER4 RELA SCAF1 SCAP SCARB1 SELL SERPINE1 SLC22A2 SLC34A1 SLC9A5 SOAT2 SREBF2 TGFB1 THBD TLR2 TLR4 TNF TNFRSF11B TNFRSF1A TNFRSF1B UCP2 VWF	10631 1113 1234 1244 1277 1281 1285 1286 1374 1435 1493 1536 154 1543 1558 1562 1577 1636 177 1812 1813 186 19 1906 2057 213 2147 2153 2213 2244 22937 23175 2335 23560 23607 2475 2739 2908 3156 335 3383 344 345 348 3552 3557 3577 3579 3667 3690 38 3816 3931 3934 3952 3990 4023 4036 4153 4312 4313 4314 4353 4627 4803 4842 4846 4868 4879 4880 4973 4982 5054 50604 51085 5167 51738 5228 5243 5328 5329 5468 5734 58506 5970 623 629 6347 6352 6402 6553 6569 6582 6721 7040 7056 7097 7099 7124 7132 7133 729 7351 7450 7941 8435 846 847 8516 8714 9365 9370 949 958 959 9619 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADAMTS4 ADAMTS5 ASPN COL10A1 COL1A1 COL2A1 CRK FOS GSK3B MMP13 MMP1 MMP3 NGF NGFR PAPPA POSTN TIMP1	10631 11096 1277 1280 1300 1398 176 2353 2932 4312 4314 4322 4803 4804 5069 54829 7076 9507	Homo sapiens (human)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	BRINP3 CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL2 IL6 POSTN PPIA	10631 1075 1277 339479 3558 3569 3586 5478 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	PDGFA PDGFB PDGFRA PDGFRB PDPN	10630 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL ANGPT1 CTNNB1 ESR1 IGF2R IGFBP6 MKI67 PDGFRA PDPN POU5F1 PTEN PTGES PTGS2 RB1 RUNX3 SFN SFRP1 XRCC1	10630 1499 207 2099 240 249 2810 284 3482 3489 4288 5156 5460 5728 5743 5925 6422 7515 864 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070283	primary autosomal recessive microcephaly 13 Aliases: MCPH13	CENPE	1062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	ERLIN1	10613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:423	myopathy	ACTB CLCN2 CLCNKB COL15A1 COL18A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM2 FHL1 FLNA FLNB FLNC HMGCR HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 LDB3 LMNA LMNB1 LMNB2 MEGF10 MEGF11 MTM1 MTMR1 MTMR2 MYBPC2 MYH15 MYH1 MYH7 NPL PDLIM5 PDLIM7 PEAR1 PSMC5	10611 11155 1181 1188 1282 1285 1286 1287 1288 1306 144983 1785 220988 2273 22989 2316 2317 2318 3156 3178 3181 375033 4000 4001 4534 4606 4619 4625 5705 60 80781 80896 84465 84466 84823 8776 8898 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources

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