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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 **4376 - 4400** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
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:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	RPE	6120	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: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:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	CD38 LPIN2 UMPS	7372 952 9663	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: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: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:14107	De Quervain disease Aliases: Radial styloid tenosynovitis Tenosynovitis, de Quervain's	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	APRT	353	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: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:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:0050575	D-2-hydroxyglutaric aciduria	GCDH IDH1 IDH2 L2HGDH	2639 3417 3418 79944	Homo sapiens (human)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	GCDH IDH2 L2HGDH	2639 3418 79944	Homo sapiens (human)
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	PTGS2	5743	Homo sapiens (human)
DOID:0080159	Cryptococcal meningitis	CYP51A1 MBL2	1595 4153	Homo sapiens (human)
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	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: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:0060192	Crohn's colitis	ABO ACACA ACAT1 ACE ACO2 ACSBG1 ACSS2 ALDH5A1 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 PLB1 PLCG2 PTEN PTGDS PTGS2 REG1B RFT1 SDC1 SELL SFTPD SLC39A8 SMUG1 SOAT1 SUCLA2 TKT 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 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 5336 54577 54658 55600 55902 56994 5728 5730 5743 593 5968 6382 6402 64090 64116 6441 6646 7086 7412 7915 79947 80329 80896 8398 8399 8529 8547 873 8794 8803 8807 8809 8897 9173 91869 92579 929 93210 9415 945 952 960 9663	Homo sapiens (human)
DOID:12287	Crimean-Congo hemorrhagic fever Aliases: CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever	CAT ICAM1 SLC17A5	26503 3383 847	Homo sapiens (human)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355	Homo sapiens (human)
DOID:12580	Cri-Du-Chat syndrome Aliases: 5p deletion syndrome 5p partial monosomy syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome	IL1RL1 SMUG1	23583 9173	Homo sapiens (human)

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