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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 **1701 - 1725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FREM1 NT5E	158326 4907	Homo sapiens (human)
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	AGA AGK ANXA5 CALR CANX CD109 CD44 CHPT1 DHDDS EPHX2 FOLR1 HPSE IL18R1 ITPKC LGALS1 MSLN MUTYH OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SMUG1 ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 TM7SF2 TP53 TYMP UGT1A1	10232 10855 135228 175 1890 2053 2348 23583 2923 308 3956 4595 4968 5290 5291 5293 5294 54658 55750 56994 5728 6401 6480 6482 6484 6487 7108 7157 79947 80271 811 821 8809 960	Homo sapiens (human)
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS MMUT OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4594 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	ABO ATP6V0A2 CANX GPI PDIA3	23545 28 2821 2923 821	Homo sapiens (human)
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	MSLN MTAP TYMP	10232 1890 4507	Homo sapiens (human)
DOID:1307	dementia	ACE ACHE ACOT7 ADH1C ADIPOQ AGPS AKR1C4 ALDH2 ARSA ASAH1 ASAH2 ATP6V0A2 ATP6V1A CD38 CEACAM5 CEACAM7 CERS1 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP19A1 CYP27A1 DHDDS DLD EBP EPHX2 EPM2A G6PD GBA1 GBA2 GBE1 GM2A GNE GPX1 H6PD HEXA HPGDS HSD11B1 ICAM1 IDH1 INPP5D INPP5K KL LIPG LPL NAGLU NDUFAB1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLAUR PLD1 PNPLA6 PRNP PSAP PTGS2 SCD SDHA SDHB SDHD SFTPC SIRT2 SLC17A5 SLC2A3 SLC33A1 SMUG1 SORD SPTLC1 ST3GAL4 SUCLA2 SYNJ1 TGDS TIGAR TPI1 UGCG VCAM1	10020 1048 10558 10682 10715 1087 10908 1103 1109 1116 1118 11332 126 1312 1464 1588 1593 1636 1738 2053 217 22933 23483 23545 23583 2539 2629 2632 26503 27306 2760 2876 3073 3290 3383 3417 3635 4023 410 427 43 4669 4706 5048 51763 523 5290 5291 5293 5294 5329 5337 5621 5660 56624 57103 5743 57704 6319 6389 6390 6392 6440 6484 6515 6652 7167 7357 7412 7941 7957 79947 8540 8803 8867 9197 9365 9370 9388 952 9563	Homo sapiens (human)
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	ACSBG1 AKR1B1 ALDH3A1 ANXA5 CANX CAT CYP19A1 CYP1A1 CYP1B1 G6PD GPX1 HACD1 HK2 HPSE IDH1 INPP4B LGALS1 LYNX1 MMP17 NTHL1 PARP1 PIK3CA PIK3CB PKD1 PTEN PTGS2 SMUG1 TNF UGCG	10855 142 1543 1545 1588 218 231 23205 23583 2539 2876 308 3099 3417 3956 4326 4913 5290 5291 5310 5728 5743 66004 7124 7357 821 847 8821 9200	Homo sapiens (human)
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	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)
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	CTSA GALNS GLB1 IDUA NEU1 OGA	10724 2588 2720 3425 4758 5476	Homo sapiens (human)
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)
DOID:9675	pulmonary emphysema	ACE ATP6V0A2 CAT CD74 CEACAM5 CEACAM7 CH25H CHI3L1 CYP2B6 EPHX2 FDPS FUT8 GCLC GPX1 IL18R1 ISYNA1 KL LGALS9 LMAN2L MAN1C1 PARP1 PIK3CA PTEN PTGS2 RGN SFTPC SFTPD SGMS2 SIGLEC9 SLC2A10 SMPD2 SMPD3 SOAT1 TLR4 TM7SF2 VCAN	1048 1087 1116 142 1462 1555 1636 166929 2053 2224 23545 2530 27180 2729 2876 3965 51477 5290 55512 57134 5728 5743 6440 6441 6610 6646 7099 7108 81031 81562 847 8809 9023 9104 9365 972	Homo sapiens (human)
DOID:13757	excessive tearing Aliases: Epiphora Excessive tear production Watering eye	ARSD	414	Homo sapiens (human)
DOID:0110846	xeroderma pigmentosum group E Aliases: XP group E XP5 XPE xeroderma pigmentosum V	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0050573	2-hydroxyglutaric aciduria	IDH1 IDH2 L2HGDH SLC25A1	3417 3418 6576 79944	Homo sapiens (human)
DOID:4188	echolalia	ATP6AP2 HGSNAT SLC35C1	10159 138050 55343	Homo sapiens (human)
DOID:0060255	rippling muscle disease 2 Aliases: autosomal dominant limb-girdle muscular dystrophy type 1C	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CHPT1 CRPPA DAG1 DCN DHDDS DPEP1 DPM1 DPM2 DPM3 ENO1 FASN FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2194 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 56994 6383 6476 729920 79147 79947 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0110207	Charcot-Marie-Tooth disease X-linked dominant 6 Aliases: CMT6X CMTX6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:2640	struma ovarii	SMUG1	23583	Homo sapiens (human)

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