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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 **3251 - 3275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080409	familial adenomatous polyposis 1	ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CLC CNTN1 DLD DPEP1 ENPP7 FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RPE RPIA SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1178 126 1272 142 151056 1604 1738 1800 192134 220 22914 22934 23583 246 250 2526 2539 2645 2720 27306 2990 308 339221 3938 3960 4360 4595 4913 4968 5048 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 570 5716 5728 5742 5743 6120 6609 6646 7941 79695 811 8398 8399 8658 873 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14223	ochronosis	CHIT1 SMUG1	1118 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12176	goiter Aliases: goitre	ABO AGA ALG1 ALPI ALPP ATRNL1 CAT CD14 CEACAM5 CEACAM7 CYP1A2 CYP2R1 GAD1 GAD2 HSD17B7 ICAM1 IDH1 IDH2 IL18R1 IL18RAP INPP4B LDHA LGALS1 LGALS3 MBL2 PARP1 PARP4 PIK3CA PKM PTEN PTGDS PTGS2 SDHB SDHC SDHD SMUG1 TM7SF2	1048 1087 120227 142 143 1544 175 23583 248 250 2571 2572 26033 28 3383 3417 3418 3939 3956 3958 4153 51478 5290 5315 56052 5728 5730 5743 6390 6391 6392 7108 847 8807 8809 8821 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110716	Warburg micro syndrome 1 Aliases: Micro Syndrome 1 WARBM1	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	AKR1B10 GLB1 NDUFAB1 PLA2G1B PLA2G4A PLA2G6 PLB1 PRPS1 SGSH	151056 2720 4706 5319 5321 5631 57016 6448 8398	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:92	speech disorder	ACOX1 AGA ALDH7A1 ASAH1 B3GALNT2 CALR CNTN4 CPT1A CYP27A1 DDOST FH FKRP FKTN GBA1 GCDH GMPPB GPC3 HK1 LARGE1 MANBA NEU1 PAFAH1B1 PNPLA6 POMGNT1 POMT1 POMT2 PTEN SMC3 STS TBXAS1	10585 10908 1374 148789 152330 1593 1650 175 2218 2271 2629 2639 2719 29925 29954 3098 412 4126 427 4758 501 5048 51 55624 5728 6916 79147 811 9126 9215	Homo sapiens (human)	DisGeNET
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	PGK1 SLC35G1	159371 5230	Homo sapiens (human)	DisGeNET
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT1 BST1 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPNMB GPX1 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LGALS1 LGALS3 LGALS4 LYPD5 MAG MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PRKAA2 PRNP PSAP PTEN PTGES3 PTGES PTGS2 RENBP RGMA RTN4R SARM1 SCD SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST8SIA4 STBD1 SUCLA2 SYNJ1 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10908 1103 1116 1118 11332 11343 125 126 127 1272 131 1312 132789 142 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 217 2194 2203 2208 2215 22876 22933 23098 23205 23583 2539 2571 2572 2581 2583 2588 2597 26232 2629 2673 27036 27087 2717 2720 27306 27349 2752 283871 284348 2876 2923 3037 3073 308 3098 3099 31 3383 3425 3482 353 3897 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 51477 51478 5160 51763 5230 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5563 5621 5660 56963 57103 5728 5743 57704 5973 6319 64116 64132 6470 6472 6476 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8803 8867 8987 9197 929 9365 952 9536 960	Homo sapiens (human)	DisGeNET
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)	DisGeNET
DOID:10602	obsolete steatorrhea	ACOX2 BAAT CYP7B1 HSD3B7 LIPA PNLIP	3988 5406 570 80270 8309 9420	Homo sapiens (human)	DisGeNET
DOID:4847	cauda equina neoplasm Aliases: tumor of the Cauda Equina	ACHE	43	Homo sapiens (human)	DisGeNET
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GHRL GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 51738 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	IDS	3423	Homo sapiens (human)	DisGeNET
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACOX1 AMACR CAT DHRS11 HADH HSD17B4 HSD17B7	23600 3033 3295 51 51478 79154 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10974	oophoritis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)	DisGeNET
DOID:5850	inferior myocardial infarction	SULT1E1	6783	Homo sapiens (human)	DisGeNET
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	ACSBG1 CD44 FUT4 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4D PTEN PTGS2 SELL SMUG1	23205 23583 2526 283748 3956 4507 4684 5290 5291 5293 5294 5315 5728 5743 6402 960	Homo sapiens (human)	DisGeNET
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	ACAN ACE AKR1B10 ALOX12 ALOX12B B3GAT1 CALR CAT CD14 CD1D CD44 CHI3L1 CNTN2 CYP1A1 CYP24A1 CYP2B6 DCN DHCR24 EBP ENPP2 FH GALNTL5 GBA1 HK2 HSD11B1 IL1R1 INPP5A KDSR KL LGALS3 LYZ MCAT MINPP1 MMUT MOGS MRC1 MSMO1 NDUFAB1 NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS1 PTGS2 SCD SDC1 SDC4 SDHD SIRT6 SOAT1 SPHK2 STS VCAM1	10682 1116 1543 1555 1591 1634 1636 168391 1718 176 2271 23509 239 242 2531 2629 27087 27349 3099 3290 3554 3632 3958 4069 412 4360 4594 4706 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 5538 5652 56848 57016 5728 5742 5743 6307 6319 6382 6385 6392 6646 6900 7412 7841 811 847 912 929 9365 9562 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110454	dilated cardiomyopathy 1S Aliases: CMD1S	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	ANXA5 CALR CD1D GPI IDS LCT LGALS9 MBL2 PC SELP	2821 308 3423 3938 3965 4153 5091 6403 811 912	Homo sapiens (human)	DisGeNET DisGeNET

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