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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 **826 - 850** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:12801	mucopolysaccharidosis III Aliases: Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CHAT CTSA DPEP1 EXT1 EXT2 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NAGPA NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 1103 138050 159371 175 176 1800 1836 2131 2132 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 51172 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH 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 TNF	10020 10724 138050 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 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	ACAN AGA APRT ARSA ARSB ARSG ARSH 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 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)
DOID:786	laryngeal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:3225	tracheal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:13949	interstitial cystitis Aliases: ulcerative cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD VCAM1	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 7412 8398 9126 9993	Homo sapiens (human)
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	ACAN ALDH2 DGCR2 ICAM1 MRC1 PARP1 PTGS2 SELE SFTPD SMC3	142 176 217 3383 4360 5743 6401 6441 9126 9993	Homo sapiens (human)
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	ACAN ALOX5 CALR CANX CD14 CD38 CD48 DAG1 DCN ENO1 ENO2 FCN2 FOLR2 GOLPH3 HACD1 HK1 HPGDS MBL2 PLAUR PTGES3 PTGS1 PTGS2 VCAM1	10728 1605 1634 176 2023 2026 2220 2350 240 27306 3098 4153 5329 5742 5743 64083 7412 811 821 9200 929 952 962	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:3315	lipoma Aliases: Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:10192	pleomorphic lipoma	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:0111192	facioscapulohumeral muscular dystrophy 1 Aliases: FSHD1 facioscapulohumeral muscular dystrophy type 1 facioscapulohumeral muscular dystrophy type 1A	ACAN ALPP ATRNL1 CD44 DCN HSPG2 LARGE1 SDC2 ST3GAL4	1634 176 250 26033 3339 6383 6484 9215 960	Homo sapiens (human)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ACAN AMACR ANXA5 APRT CD44 CDS1 CHI3L1 CSPG4 DCN EFNA5 EXT1 EXT2 GLB1 GPC3 HS3ST1 HSPG2 ICAM1 IDH1 IDH2 LDHA MTAP NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTEN PTGS2 SDC2 SFTPC SLC2A10 SMUG1 SPHK2 TM7SF2 TUSC3 VCAM1 VCAN	10135 1040 1116 142 1462 1464 1634 176 1946 2131 2132 23583 23600 2719 2720 308 3339 3383 3417 3418 353 3939 4507 5290 5291 5293 5294 5563 5621 56848 5728 5743 6383 6440 7108 7412 7991 81031 960 9957	Homo sapiens (human)
DOID:14116	multiple symmetric lipomatosis Aliases: LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis	ACAN AMACR CEL CPM DCN PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN PYGM	1056 10908 1368 1634 176 23600 5290 5291 5293 5294 5728 5837	Homo sapiens (human)
DOID:1856	cherubism	ACAN APRT B3GALT6 B3GAT1 DCN EXT1 EXT2 EXTL3 HPSE IDH1 IDH2 PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 126792 1634 176 2131 2132 2137 23583 27087 3417 3418 353 5336 5728 5743 8658	Homo sapiens (human)
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	ACAN CANX COL9A2 DCN	1298 1634 176 821	Homo sapiens (human)
DOID:10316	pneumoconiosis	ACAN CAT GAD1 HS3ST6 PTGS2	176 2571 5743 64711 847	Homo sapiens (human)
DOID:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)
DOID:3302	chordoma Aliases: notochordoma	ACAN CBR1 CSPG4 FCGR3B IDH1 LGALS9 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SIGLEC7	142 1464 176 2215 27036 3417 3965 5290 5291 5293 5294 5728 873	Homo sapiens (human)
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)

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