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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 **801 - 825** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CD44 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG ICAM1 IDUA KL LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLPP3 PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS TNF	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3383 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 7124 7941 81031 84572 8473 8613 929 9365 9469 960 9791	Homo sapiens (human)
DOID:0080334	aortic valve disease 2	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG IDUA LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 81031 84572 8473 929 9469 9791	Homo sapiens (human)
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:0080332	bicuspid aortic valve disease Aliases: Familial bicuspid aortic valve	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:0080333	aortic valve disease 1	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:10320	asbestosis	ACAN ACE CAT CD44 CHI3L1 CPM CYP2E1 GAD1 GGT1 HPGDS HS3ST6 IL18R1 KLRK1 MBL2 MSLN OGG1 PTEN PTGS2 SDC2 SELE SELL SFTPD TM7SF2 UGT8	10232 1116 1368 1571 1636 176 22914 2571 2678 27306 4153 4968 5728 5743 6383 6401 6402 6441 64711 7108 7368 847 8809 960	Homo sapiens (human)
DOID:10324	anthracosilicosis	ACAN ACE CAT CD44 CHI3L1 CPM CYP2E1 GAD1 GGT1 HPGDS HS3ST6 IL18R1 MBL2 MSLN OGG1 PTEN PTGS2 SDC2 SELE SELL SFTPD TM7SF2 UGT8	10232 1116 1368 1571 1636 176 2571 2678 27306 4153 4968 5728 5743 6383 6401 6402 6441 64711 7108 7368 847 8809 960	Homo sapiens (human)
DOID:12169	carpal tunnel syndrome Aliases: CTS - Carpal tunnel syndrome Median nerve entrapment carpal tunnel median neuropathy	ACAN ACE CHPT1 COMT CYP19A1 OLR1 PTGS2 UMPS	1312 1588 1636 176 4973 56994 5743 7372	Homo sapiens (human)
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	ACAN ACER3 AGA AGL ALDH3A2 ALDOA ALOX12B ALPL ALPP ARSB ASAH1 ATP6V0A2 ATP6V1A ATRNL1 B3GALT6 B3GAT3 B4GALT7 CD38 CERS3 CHST3 CHSY1 COG4 COG5 COG7 COL9A2 COLEC10 COMT CRYL1 CSGALNACT1 CTNS CTSA CYP11B1 CYP17A1 CYP19A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 DCN DDOST DGCR2 DHCR24 DHCR7 DHDDS EBP EHHADH ENPP1 EXT1 EXT2 FIG4 FUCA1 FUT8 G6PC1 GALNS GALNT2 GAPDH GAS1 GBA1 GCK GFPT1 GK GLA GLB1 GM2A GMPPA GNPTAB GNPTG GPC3 GPD1 GUSB GYS2 H6PD HACD1 HPRT1 HSD11B2 HSD17B4 HSPG2 HYAL1 IDH1 IDH2 IDS IDUA INPP5K INPPL1 KDSR L1CAM LARGE1 LFNG MGAT2 MLYCD MSMO1 NEU1 OCRL OGDH PAPSS2 PCCA PCCB PCYT1A PGAP1 PGM1 PGM3 PIK3C2A PIK3CA PLCG1 PNPLA2 PNPLA6 PRPS1 PTDSS1 PTEN PYGL RFT1 SDHA SDHB SDHC SDHD SIRT6 SLC26A2 SLC2A2 SLC35A2 SLC35C1 SLC37A4 SLC39A8 SMC3 SMPD1 SMPD3 SOAT1 STS SUCLA2 SULT1E1 SULT2B1 SUMF1 SYNJ1 TGDS TMEM165 UGDH VCAM1 XYLT1	10466 10584 10682 10908 11285 120227 126792 1298 1312 1497 1555 1557 1559 1584 1586 1588 1594 1634 1650 1717 1718 175 176 178 1836 1962 204219 2131 2132 224 226 22856 23417 23483 23545 242 249 250 2517 2530 2531 2538 2542 25839 2588 2590 2597 26033 2619 26229 2629 2645 2673 2710 2717 2719 2720 2760 2819 285362 2990 29926 2998 3251 3291 3295 3339 3373 3417 3418 3423 3425 3636 3897 3955 411 412 4247 427 4758 4952 4967 5095 5096 51084 5130 51548 5167 51763 523 5236 5238 5286 5290 5335 5476 55331 55343 55512 55790 55858 5631 57104 5728 5836 6307 6389 6390 6391 6392 64116 64131 6514 6609 6646 6783 6820 7355 7358 7412 79158 79947 80055 84572 8803 8867 9060 9126 91869 91949 9200 9215 9469 952 9563 9791 9896 9993	Homo sapiens (human)
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	ACAN ACER3 AGA AGL ALDH3A2 ALDOA ALOX12B ALPL ALPP ARSB ASAH1 ATP6V0A2 ATP6V1A ATRNL1 B3GALT6 B3GAT3 B4GALT7 CD38 CERS3 CHST3 CHSY1 COG4 COG5 COG7 COL9A2 COLEC10 COMT CRYL1 CSGALNACT1 CTNS CTSA CYP11B1 CYP17A1 CYP19A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 DDOST DGCR2 DHCR24 DHCR7 DHDDS EBP EHHADH ENPP1 EXT1 EXT2 FIG4 FUCA1 FUT8 G6PC1 GALNS GAPDH GAS1 GBA1 GCK GFPT1 GK GLA GLB1 GM2A GMPPA GNPTAB GNPTG GPC3 GPD1 GUSB GYS2 H6PD HACD1 HPRT1 HSD11B2 HSD17B4 HSPG2 HYAL1 IDH1 IDH2 IDS IDUA INPP5K INPPL1 KDSR L1CAM LARGE1 LFNG MGAT2 MLYCD MSMO1 NEU1 OCRL OGDH PAPSS2 PCCA PCCB PCYT1A PGAP1 PGM1 PGM3 PIK3C2A PIK3CA PNPLA2 PNPLA6 PRPS1 PTDSS1 PTEN PYGL RFT1 SDHA SDHB SDHC SDHD SIRT6 SLC26A2 SLC2A2 SLC35A2 SLC35C1 SLC35G1 SLC37A4 SLC39A8 SMC3 SMPD1 SMPD3 SOAT1 STS SUCLA2 SULT1E1 SULT2B1 SUMF1 SYNJ1 TGDS TMEM165 UGDH VCAM1 XYLT1	10466 10584 10682 10908 11285 120227 126792 1298 1312 1497 1555 1557 1559 1584 1586 1588 159371 1594 1650 1717 1718 175 176 178 1836 1962 204219 2131 2132 224 226 22856 23417 23483 23545 242 249 250 2517 2530 2531 2538 2542 25839 2588 2597 26033 2619 26229 2629 2645 2673 2710 2717 2719 2720 2760 2819 285362 2990 29926 2998 3251 3291 3295 3339 3373 3417 3418 3423 3425 3636 3897 3955 411 412 4247 427 4758 4952 4967 5095 5096 51084 5130 51548 5167 51763 523 5236 5238 5286 5290 5476 55331 55343 55512 55790 55858 5631 57104 5728 5836 6307 6389 6390 6391 6392 64116 64131 6514 6609 6646 6783 6820 7355 7358 7412 79158 79947 80055 84572 8803 8867 9060 9126 91869 91949 9200 9215 9469 952 9563 9791 9896 9993	Homo sapiens (human)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL ARSB B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP27B1 CYP2B6 CYP2C19 CYP2C9 DCN EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB GNPTG HS6ST1 HSPG2 HYAL1 IDS IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 SPAM1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 1594 1634 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3373 3423 3425 3955 411 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 6677 79158 79796 84572 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP2B6 CYP2C19 CYP2C9 EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB HS6ST1 HSPG2 IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3425 3955 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 79158 79796 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:813	septic arthritis Aliases: infectious arthritis	ACAN ACLY ACSS2 FUT4 PLA2G15 SMUG1	176 23583 23659 2526 47 55902	Homo sapiens (human)
DOID:203	exostosis Aliases: bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis	ACAN ACLY ADH1B APRT B3GALT6 B3GAT1 CD14 CD44 DCN EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 125 126792 1634 176 2131 2132 2137 2331 23583 27087 3339 3417 3418 353 47 5336 5728 5743 8658 929 9365 960	Homo sapiens (human)
DOID:2964	periarthritis	ACAN ACLY ADH1B B3GALT6 CD14 CD44 DCN ENPP1 EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PTEN	10855 125 126792 1634 176 2131 2132 2137 2331 3339 3417 3418 47 5167 5728 929 9365 960	Homo sapiens (human)
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	ACAN ACOT7 CHST3 COMT FADS1 FADS2 GLB1	11332 1312 176 2720 3992 9415 9469	Homo sapiens (human)
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	ACAN ACSL3 ACSL4 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD38 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 CYP3A4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PDHX PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD2 PLPP2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 TP53 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1576 1634 1718 176 2137 2181 2182 2215 2262 22856 22914 22933 23583 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55907 57124 5728 5743 6389 6390 6391 6403 7108 7157 8050 83666 8612 8789 912 929 952 960	Homo sapiens (human)
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)
DOID:4235	spindle cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	ACAN ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 DDOST EXT1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1650 176 1890 2131 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADH1B CD74 COL9A2 COMT DGCR2 GAS1 GPC6 GSK3B ICAM1 IDH1 IDH2 IL18RAP LDHA LGALS3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIRT2 SIRT6 SRGN SULF1 TIGAR XYLT1	10082 125 1298 1312 176 22933 23213 2619 283871 2932 3383 3417 3418 3939 3958 51548 5290 5291 5293 5294 5552 57103 5728 5743 64131 8807 972 9993	Homo sapiens (human)
DOID:1924	hypogonadism	ACAN ADH5 ALG1 ALPP AMACR ATRNL1 B4GALNT1 CA4 CD38 CTNS CYP11A1 CYP17A1 CYP19A1 CYP2R1 DDOST DHDDS EXT1 G6PC3 GALT GK HGSNAT HJV HS6ST1 HSD17B3 HSD3B1 IDH3A IDH3B INPP5K LEP PMM2 PNPLA6 POMGNT1 PTDSS1 SCP2 SGPL1 SLC3A1 STS TYMP	10908 120227 128 138050 148738 1497 1583 1586 1588 1650 176 1890 2131 23600 250 2583 2592 26033 2710 3283 3293 3419 3420 3952 412 51763 5373 55624 56052 6342 6519 762 79947 8879 92579 9394 952 9791	Homo sapiens (human)
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	ACAN AGA ALDH3A2 ALG9 ALPL APRT ARSA ARSB ARSG ARSH B3GAT3 B4GALT7 CANX CAT CD1D CD38 CHST1 CHST3 COL9A2 CTSA DPEP1 EBP ENPP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HS6ST1 HSPG2 HYAL1 HYAL2 IDS IDUA L1CAM LFNG MAN2B1 NAGLU NANS NEU1 NT5E OGA PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SLC35G1 SMUG1 SPAM1 ST3GAL1 ST3GAL2 ST3GAL4 SUMF1 XYLT1	10020 10682 10724 11285 1298 138050 159371 175 176 1800 1836 2135 2137 224 22901 23169 23443 23583 249 2517 2523 2588 26229 2720 2799 285362 2990 3339 3373 3423 3425 347527 353 3897 3955 410 411 4125 4669 4758 4907 5167 5238 54187 5476 5728 64131 6448 6482 6483 6484 6677 79158 79796 821 84572 847 8534 8692 9060 912 9394 9469 952	Homo sapiens (human)
DOID:12798	mucopolysaccharidosis	ACAN AGA APRT ARSA ARSB ARSG ARSH ARSK CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 153642 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)

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