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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5601 - 5625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4330	non-Langerhans-cell histiocytosis	LYZ NCAM1	4069 4684	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:3133	acute porphyria Aliases: hepatic porphyria	CYP2B6	1555	Homo sapiens (human)	DisGeNET
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	CAT COMT CYP1B1 HPGDS HPRT1 MPG OGG1 PIK3CA PIK3CD PIK3CG PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4350 4968 5290 5293 5294 5728 5743 64132 6888 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110547	autosomal dominant nonsyndromic deafness 16 Aliases: DFNA16 autosomal dominant deafness 16	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:0060075	estrogen-receptor positive breast cancer	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	A4GALT ABO BAAT C1GALT1C1 CAT CD22 CLEC1B CYP21A2 DGKE G6PD GPI GRHPR IL1RL1 LIPG MASP1 MBL2 PIGA PLA2G7 SLC35G1 ST8SIA2 TM7SF2	1589 159371 2539 28 2821 29071 4153 51266 5277 53947 5648 570 7108 7941 8128 847 8526 9173 933 9380 9388	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	CAT CNTN4 ELOVL4 ELOVL5 ENPP2 GLO1 HPGDS HSD17B6 MPI OGA PLA2G1B PLA2G2A PLA2G6 PLB1 PNPLA6 PRNP SDHC SPTLC3 SUMF1 TREH	10724 10908 11181 151056 152330 27306 2739 285362 4351 5168 5319 5320 55304 5621 60481 6391 6785 8398 847 8630	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	ACE	1636	Homo sapiens (human)	DisGeNET
DOID:11755	choledocholithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:8506	bullous pemphigoid	CD22 CD55 CYP2B6 GLB1 HSD17B6 ICAM1 MRC1 PKD1 SELE SELL SOAT1 VCAM1	1555 1604 2720 3383 4360 5310 6401 6402 6646 7412 8630 933	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	CERS6 GAPDH GFRA1 LDHA PRNP	253782 2597 2674 3939 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8622	measles Aliases: morbilli	APRT ASAH1 CANX CCDC115 CEACAM5 FOLR2 GLB1 HPRT1 IL18R1 MRC1	1048 2350 2720 3251 353 427 4360 821 84317 8809	Homo sapiens (human)	DisGeNET
DOID:2800	acute interstitial pneumonia Aliases: AIP Hamman-Rich disease Hamman-Rich syndrome Idiopathic pulmonary fibrosis, acute fatal form accelerated interstitial pneumonia acute interstitial pneumonitis	AMY2A ARSA CHI3L1 DCN DEGS1 ENO1 MBL2 PKD1 PTEN PTGS2 RECK SDC4 SFTPA1 SFTPA2 SFTPC SFTPD SMUG1 VCAN	1116 1462 1634 2023 23583 279 410 4153 5310 5728 5743 6385 6440 6441 653509 729238 8434 8560	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	IDH1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN TMED3	142 23423 3417 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:4658	benign mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110751	type 1 diabetes mellitus 12 Aliases: IDDM12 Insulin-Dependent Diabetes Mellitus 12	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	PGK1	5230	Homo sapiens (human)	DisGeNET
DOID:8675	obsolete ymphosarcoma	ABO ACAA1 ACACA ACACB ACE ACHE ACOX1 ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALOX12 ALPI ALPP AMACR AMT ANXA5 APRT ATRNL1 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CDS1 CEACAM5 CEL CFC1 CHI3L1 CHPT1 CLEC10A CNTN2 COMT CS CSPG4 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPHX2 EPM2A FASN FBP1 FCER2 FCGR3B FCN2 FH FMOD FUT1 G6PD GAPDH GBA1 GBE1 GCSH GFRA1 GGT1 GLB1 GLDC GPC5 GPI GPX1 H6PD HACD1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IDUA IL1R1 IL1RAPL1 IL1RL1 INPP4B INPP5D ISYNA1 ITPKB KDSR KL KLRC1 KLRD1 KLRK1 LDHA LGALS1 LGALS3 LGALS9 LY6G6D LY6K LYPD5 LYZ MASP2 MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 NTHL1 OGG1 OPCML PAFAH1B1 PARP1 PARP4 PARP9 PC PDHX PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLCG2 PLD2 PLOD3 PNP PPP1R3A PRKAA2 PSMD10 PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SELL SHMT1 SHMT2 SIGLEC10 SIRT4 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMEM260 TMTC3 TNFRSF10C UNG VCAM1 VNN1 VTCN1	10026 1012 10135 10327 1040 10462 1048 1056 10747 10855 10998 11141 1116 1312 142 143 1431 1464 1543 1545 1555 1559 1571 1576 1586 1591 1594 1604 160418 1636 1645 197322 200576 2026 2053 2194 2203 2208 2215 2220 2262 2271 22914 23205 2331 23409 23417 23583 23600 239 248 250 2523 2531 2539 2597 26033 2629 2632 2653 2674 2678 2720 27306 2731 27349 275 28 2821 283871 284348 2876 30 3073 308 3099 31 3161 32 3251 3383 3417 3418 3425 347734 353 3554 3635 3707 3821 3824 3939 3956 3958 3965 4069 412 4153 43 4360 4507 4684 4706 4860 4913 4968 4978 5048 5091 51 51477 5238 5290 5291 5293 5294 5315 5336 5338 54742 54916 5506 55556 5563 55997 56052 56848 56994 57103 5716 5728 5730 5743 58530 6382 6401 6402 6470 6472 65078 6514 6515 6517 6646 6783 6900 7355 7374 7412 7957 79679 79947 8050 811 81849 8277 83666 847 8644 8692 8794 8821 8876 8877 89790 8985 912 9126 9173 9200 929 933 9365 945 952 9536 9563 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12206	dengue hemorrhagic fever Aliases: DHF	AKR1C4 BST2 CD14 CD1D CD209 CD74 CLEC5A FASN FCGR3B G6PD GOLPH3 ICAM1 IL1R1 IL1RL1 KLRD1 MBL2 MICA MPG NCAM1 NDST1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PLCE1 SELE SIGLEC9 SLC17A5 SMUG1 SPHK2 VCAM1	100507436 1109 2194 2215 23583 23601 2539 26503 27180 30835 3340 3383 3554 3824 4153 4350 4684 51196 5290 5291 5293 5294 5332 56848 6401 64083 684 7412 912 9173 929 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 COG6 CYP7B1 DDOST ENO1 ENPP2 G6PC1 GALT GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIGA PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP TMTC3	10855 11332 151056 160418 1650 2023 229 23600 2538 25839 2592 27163 3958 3998 410 4351 5091 51266 5168 5277 5290 5321 570 5742 57511 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6270	gastric cardia carcinoma Aliases: carcinoma of Cardia of stomach	CEACAM5 CEACAM7 CYP1A1 CYP2E1 CYP4F3 PLCE1	1048 1087 1543 1571 4051 51196	Homo sapiens (human)	DisGeNET
DOID:3082	interstitial lung disease Aliases: ILD	ACE ADH5 CANX CD14 CD22 CEACAM5 CEL CHI3L1 CHIT1 CYP2B6 FCER2 FCN2 FCN3 FOLR2 GBA1 GGT1 ICAM1 ICAM2 INPP5E LGALS1 LYZ MRC1 PARP9 PLCG2 SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 VCAM1	1048 1056 10998 1116 1118 128 1555 1636 2208 2220 2350 23583 2629 2678 3383 3384 3956 4069 4360 5336 56623 6440 6441 653509 6609 729238 7412 81031 821 83666 8482 8547 929 933	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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