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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 **226 - 250** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABO ACACA ACAT1 ACE ACO2 ACSBG1 ACSS2 ADIPOQ ALDH5A1 ALOX12 ALOX5 ALPI ALPP AMT ARSA ATP6V0A2 BCKDHA CBR1 CD14 CD209 CD33 CD38 CD44 CDH13 CEACAM6 CERS1 CHI3L1 CHPT1 CHST15 CLEC10A CLEC12A CLEC16A CYP19A1 CYP1A1 CYP27B1 CYP2J2 CYP3A4 CYP4F2 CYP4F3 DAG1 DHDDS DPEP1 EPHX2 FADS1 FADS2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 G6PC3 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 IDH1 IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D IPMK ITLN1 KLRK1 LACC1 LCT LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MGLL MICA MTMR3 NEU1 NPL NT5E PAFAH1B1 PARP1 PGAP3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCG2 PTEN PTGDS PTGS2 REG1B RFT1 SDC1 SELL SFTPD SLC39A8 SMUG1 SOAT1 SUCLA2 TKT TNF TNFRSF10C UGT1A1 UGT1A7 ULBP1 UST VCAM1	100507436 10090 1012 10462 10715 10747 10855 1116 11343 130589 140733 142 144811 151056 1543 1573 1576 1588 1594 160364 1605 1636 1800 200576 2053 2215 2220 2271 22914 23205 23274 23545 23583 23659 239 240 248 250 2524 2525 253430 2590 2597 2720 27306 275 28 2813 2876 2990 30835 31 3161 3291 3383 3417 3554 3635 38 3938 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4680 4758 4907 50 5048 51363 5290 5291 5293 5294 5315 5319 5320 5321 5329 5336 54577 54658 55600 55902 56994 5728 5730 5743 593 5968 6382 6402 64090 64116 6441 6646 7086 7124 7412 7915 79947 80329 80896 8398 8399 8529 8547 873 8794 8803 8807 8809 8897 9173 91869 92579 929 93210 9370 9415 945 952 960 9663	Homo sapiens (human)
DOID:6225	Cronkhite-Canada syndrome Aliases: gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes	PTEN	5728	Homo sapiens (human)
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	Homo sapiens (human)
DOID:0080159	Cryptococcal meningitis	CYP51A1 MBL2	1595 4153	Homo sapiens (human)
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	PTGS2	5743	Homo sapiens (human)
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	GCDH IDH2 L2HGDH	2639 3418 79944	Homo sapiens (human)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)
DOID:0050575	D-2-hydroxyglutaric aciduria	GCDH IDH1 IDH2 L2HGDH	2639 3417 3418 79944	Homo sapiens (human)
DOID:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ATP6V0A2 ATP6V1A B3GALNT2 B4GALT1 B4GAT1 COG8 CRPPA DAG1 DHCR7 EBP FKRP FKTN GPC3 LARGE1 PIGN PMM2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SLC35A2	10329 10585 10682 11041 148789 1605 1717 2218 23545 23556 2683 2719 29954 523 5373 55624 729920 7355 79147 84197 84342 84892 9215	Homo sapiens (human)
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	APRT	353	Homo sapiens (human)
DOID:14107	De Quervain disease Aliases: Radial styloid tenosynovitis Tenosynovitis, de Quervain's	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLC EXT2 INPP5B NAGLU OCRL	1178 2132 3633 4669 4952	Homo sapiens (human)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CHST3 FAM20B PGM3 XYLT1 XYLT2	5238 64131 64132 9469 9917	Homo sapiens (human)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SLC25A1 SULT1E1	130749 1312 2629 27163 3340 410 6576 6783 8398 9993	Homo sapiens (human)
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACO1 AGA ARSA ARSD B3GAT1 BST2 CAT CBR1 CD14 CD38 CHAT COMT CPT1B CYP17A1 CYP19A1 CYP2B6 ENO2 ENOSF1 FCGR3B GAD1 GAPDH GMPPA GPI GPX1 GPX3 HAS2 HPGDS HPSE2 ICAM1 IL1RL1 INPP5D LTA4H MRC1 NCAM1 NT5E PARP1 PARP4 PCYT1A PEMT PFKL PGD PIGP PIK3CD PIP4K2A PLA2G2D POFUT2 PRNP PRSS21 PTGS2 RENBP SHMT1 SHMT2 SOAT1 STS SUCLA2 SULT1E1 SYNJ1 SYNJ2 TNFRSF10C	10400 10942 1103 1312 1375 142 143 1555 1586 1588 175 2026 2215 23275 2571 2597 26279 27087 27306 2821 2876 2878 29926 3037 3383 3635 4048 410 412 414 4360 4684 48 4907 51227 5130 5211 5226 5293 5305 55556 5621 5743 5973 60495 6470 6472 6646 6783 684 847 873 8794 8803 8867 8871 9173 929 952	Homo sapiens (human)
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	RPE	6120	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:14796	Dubowitz syndrome Aliases: Dubowitz's syndrome	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)
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	ACE ACHE ACOT7 ACSL4 AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GPC1 GPX3 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PLA2G6 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 RGN RXYLT1 SDC2 SDC3 SI ST8SIA4 SYNJ1 SYNJ2 TM7SF2 VCAM1 VCAN XYLT1	10329 10585 11041 1119 1120 11332 120071 124872 142 1462 148738 148789 1605 1634 1636 178 1800 2023 2182 2218 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 56983 6383 64131 6476 7108 729920 7412 7903 79147 8398 84197 84892 8813 8818 8867 8871 8972 9104 9173 9215 9365 9388 952 9672	Homo sapiens (human)
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)

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