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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 **5451 - 5475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0090039	torsion dystonia 6	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:4072	duodenum disease Aliases: duodenal disease duodenum disorder	CAT CEACAM5 CEACAM7 CYP2C9 DHRS11 HSD17B7 OGG1 PTEN PTGS2	1048 1087 1559 4968 51478 5728 5743 79154 847	Homo sapiens (human)	DisGeNET
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET
DOID:10575	calcium metabolism disease	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	ACE CYP11B1 CYP11B2 CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2 SLC2A10	10020 1544 1573 1584 1585 1636 3423 3958 54187 55556 5728 5743 79158 81031	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060397	chromosome 15q26-qter deletion syndrome Aliases: 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7305	astroblastoma	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT TALDO1	6888 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	COG2 EFNA5 PLA2G7	1946 22796 7941	Homo sapiens (human)	DisGeNET
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	AGA CHIT1 CTSA CYP21A2 FUCA1 GLB1 HPRT1 MAN2B1 NEU1	1118 1589 175 2517 2720 3251 4125 4758 5476	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	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 INS 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 3630 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 Alliance of Genome Resources
DOID:1673	pneumothorax	CHST14 PTGS1 PTGS2 SMUG1 TECR	113189 23583 5742 5743 9524	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060582	Noonan syndrome 4 Aliases: NS4	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH 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 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
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	ABO ACE ACHE ACO2 ACYP2 AKR1C3 ALDH9A1 ALOX5 AMACR ANXA5 APRT CAT CD44 CD74 CEACAM5 CEACAM7 COMT CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP3A4 CYP4F3 DHCR24 FASN FH G6PD GLO1 GPX1 HPGDS ICAM1 IDH1 KL L1CAM LDHA LGALS3 ME1 MICA MRC1 NAMPT NT5E OGG1 PDHX PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2R1 PLCG2 PPARGC1A PTEN PTGS2 RGN SDHB SDHD SMUG1 SORD SPHK1 ST6GALNAC6 UGT2B7 VCAM1 VCAN	100507436 10135 1048 1087 10891 1312 1462 1543 1545 1576 1584 1585 1586 1636 1718 2194 223 2271 22925 23583 23600 240 2539 27306 2739 28 283871 2876 308 30815 3383 3417 353 3897 3939 3958 4051 4199 43 4360 4907 4968 50 5290 5291 5293 5294 5310 5315 5336 5728 5743 6390 6392 6652 7364 7412 8050 847 8644 8877 9104 9365 960 972 98	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1754	mitral valve stenosis Aliases: Mitral stenosis	ACE CAT CD14 CD1D CHI3L1 CHST3 COMT CYP2R1 GBA1 KLRB1 LALBA PLD1 SLC2A4 SULT1E1 XYLT1 XYLT2	1116 120227 1312 1636 2629 3820 3906 5337 64131 64132 6517 6783 847 912 929 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)	Alliance of Genome Resources
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	CEACAM5 GNE IL1R1 INPP5D NEU1 PIGN	10020 1048 23556 3554 3635 4758	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2355	anemia Aliases: anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 TNF UGCG UGT1A1 UMPS VCAM1	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 7124 729920 7357 7372 7412 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ACAA1 ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1 SCP2	2819 30 3295 5048 51478 6342 8309 8443 847 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6886	ureter small cell carcinoma Aliases: ureteral small cell carcinoma	CHGA	1113	Homo sapiens (human)	DisGeNET
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)	DisGeNET
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	GBA1	2629	Homo sapiens (human)	DisGeNET

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