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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 **1026 - 1050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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:971	tendinitis	CCN2 FMOD LRP5 MMP1 POSTN	10631 1490 2331 4041 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	Ildr1	106347	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	Atp10a Sema7a Slc51a	106407 11982 20361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	Bdh1 Dlg1 Dlg2 Dlg4 Hsd17b2 Hsd17b6 Inhca Ltf Meltf Slc51a Trf	106407 13383 13385 15486 17002 22041 23859 27400 30060 71775 71911	Mus musculus (house mouse)	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:0081188	autosomal recessive intellectual developmental disorder 14	Tecr	106529	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050889	non-syndromic intellectual disability	Tecr	106529	Mus musculus (house mouse)	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: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:225	syndrome	Apoo Apool Scaf8	106583 68117 68316	Mus musculus (house mouse)	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: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: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:0050671	female breast cancer	ATM CHEK2 CTCF MAST1 PALB2 POLH	10664 11200 22983 472 5429 79728	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:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	CTCF DDX5 KNSTRN	10664 1655 90417	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:0070051	autosomal dominant intellectual developmental disorder 21 Aliases: MRD21 autosomal dominant mental retardation 21 autosomal dominant non-syndromic intellectual disability 21	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	APOE BDNF BST2 CAST CCR5 CCR7 CD40LG CTLA4 CYP19A1 CYP1A1 E2F1 FAS GDNF HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPH1 ICAM1 IFNG IL10 IL13 IL1RN IL23R IL2 IL2RA IL4 IL6 LTA MMP3 MMP9 MUC16 MUC19 MUC5AC NEFL PON1 REG1A SATB1 SELP ST14 STAT4 TGFB1 THBS1 TNF TNFSF13B TRAF3IP2 VIM	10673 10758 1234 1236 149233 1493 1543 1588 1869 2668 283463 3117 3119 3123 3187 3383 3458 348 355 3557 3558 3559 3565 3569 3586 3596 4049 4314 4318 4586 4747 5444 5967 627 6304 6403 6768 6775 684 7040 7057 7124 7431 831 94025 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	ARSL EBP NSDHL	10682 415 50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	ARSL EBP MSMO1	10682 415 6307	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources

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