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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 **4326 - 4350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)
DOID:8850	salivary gland cancer Aliases: malignant neoplasm of salivary gland	ACACB ISYNA1 LGALS3 MSLN PYGB ST3GAL4 VCAN	10232 1462 32 3958 51477 5834 6484	Homo sapiens (human)
DOID:0060643	primary sclerosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS TNF	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 7124 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABO ACACA ACE AGPAT2 AKR1C3 AKT1 ALOX5 ALPI ALPP ANXA5 B3GAT1 B4GALT1 CALR CAT CD14 CD177 CD33 CD38 CD44 CD55 CDH13 CEACAM5 CLEC12A CYP1A1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 EBP ETNK1 FCGR3B FOLR2 FUT1 FUT4 FUT8 G6PD GPI GPX1 GPX3 GUSB HK2 HMGCLL1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IL18R1 IL1RAP IMPA1 INPP5D INPPL1 KLRC1 LGALS3 LGALS9 LTA4H LTC4S MICA MRC1 NCAM1 PARP1 PCYT1A PFKFB3 PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SELL SFTPA1 SOAT1 ST3GAL1 ST8SIA1 ST8SIA4 TKT TKTL1 TPI1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG	100507436 1012 1048 10555 10682 10855 142 1543 1555 1558 1576 1577 160364 1604 1636 207 2215 2350 240 248 250 2523 2526 2530 2539 2683 27087 27306 28 2821 283871 2876 2878 2990 308 3099 31 3161 3251 3339 3383 3417 3418 3556 3612 3635 3636 3821 3958 3965 4048 4056 4360 4684 5130 5209 5290 5291 5293 5294 5315 5333 54511 54575 54576 54577 54578 54657 54658 55300 55500 5563 57126 5728 5742 5743 6402 6482 6489 653509 6646 7086 7167 7374 7903 811 8277 847 8644 8809 929 945 952 960	Homo sapiens (human)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)
DOID:4535	hypotrichosis	ALOX12B GALNT3 GLB1 LSS PIGL PTGS2 SULT2B1 XYLT1	242 2591 2720 4047 5743 64131 6820 9487	Homo sapiens (human)
DOID:0111044	gray platelet syndrome Aliases: BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:0110507	autosomal recessive nonsyndromic deafness 5 Aliases: DFNB5 autosomal recessive deafness 5	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)
DOID:1059	intellectual disability	hst-1	177675	Caenorhabditis elegans
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GALT1 B3GLCT POFUT2	145173 23275 8708	Homo sapiens (human)
DOID:0080479	peroxisome biogenesis disorder 4A Aliases: peroxisome biogenesis disorder 4A (Zellweger)	CYP17A1	1586	Homo sapiens (human)
DOID:9650	pathologic nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	CG31115 Mtap	318597 36955	Drosophila melanogaster (fruit fly)
DOID:0080067	Charcot-Marie-Tooth disease type 5 Aliases: hereditary motor and sensory neuropathy with pyramidal features	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3612	retinitis	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CHAT CHI3L1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PLA2G7 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5338 55624 56848 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:3663	cutaneous mastocytosis Aliases: CM	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)
DOID:11151	cholecystolithiasis	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)
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	Mapk14 Trp53	22059 26416	Mus musculus (house mouse)
DOID:9835	refractive error	B3GAT3 PCCA	26229 5095	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:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	300741	Rattus norvegicus (Norway rat)
DOID:9976	heroin dependence	Comt	24267	Rattus norvegicus (Norway rat)
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)
DOID:1059	intellectual disability	Pgi SMC3 sfl teq	32627 35886 38736 39048	Drosophila melanogaster (fruit fly)

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