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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 **1251 - 1275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	ACACA 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 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)	DisGeNET
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ABO ACACA ACE ACSM3 ACYP2 ALOX5 B4GALT1 B4GALT7 C1GALT1 C1GALT1C1 CD14 CD44 CD55 CHGA CHPF CLEC14A CYP11B2 CYP19A1 CYP21A2 DCN EPHX2 FCGR3B GAPDH HPSE HSPG2 ICAM1 KL LMAN1 MAN2B1 MBL2 MPDU1 MPG MTM1 MTMR3 NEU1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLA2R1 PLB1 PTEN QTRT1 SACM1L SELE SELL SLC17A5 SLC3A1 ST6GAL1 ST6GALNAC2 STT3A TLR1 TNF UMOD VCAM1 VTCN1	10610 10855 1113 11285 142 151056 1585 1588 1589 1604 161198 1634 1636 2053 2215 22908 22925 240 2597 26503 2683 28 29071 31 3339 3383 3703 3998 4125 4153 4350 4534 4758 5290 5291 5293 5294 5319 56913 5728 6296 6401 6402 6480 6519 7096 7124 7369 7412 7941 79586 79679 81890 8897 929 9365 9526 960 98	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ SELL TP53	28 6402 7157 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	PNPLA6 XYLT1	10908 64131	Homo sapiens (human)	DisGeNET
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050904	salivary gland carcinoma	PTGS1	5742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABAT ABO ACADM ACADS ACADSB ACAT1 ACE ACHE ACO2 ACOT7 ACOX1 ACSM3 ADPRS AGA AGPS AGRN AKR1C3 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALDOB ALG11 ALG13 ALG1 ALG2 ALG3 ALG6 ALG9 ALOX15 ALPL AMACR AMT APRT ARSA ARSD ASAH1 ATP1A2 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT BCKDHA BCKDHB CACNA2D1 CACNA2D2 CAT CD38 CD44 CHAT CHI3L1 CHKA CHKB CLC CLEC7A CLN5 CNTN2 CNTN4 CNTN6 COG2 COG5 COG6 COG8 COLGALT1 COMT CPT1A CPT2 CRPPA CTSA CYB5R3 CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DAG1 DBT DDOST DEGS1 DGCR2 DGKD DGKE DHCR24 DHDDS DLD DPAGT1 DPM2 EBP ECHS1 ELOVL4 ENO2 EOGT EPM2A ETNK1 ETNK2 EXT1 EXT2 FBP1 FCSK FDFT1 FH FIG4 FKRP FKTN FOLR1 FUCA1 FUT8 G6PC1 G6PD GAD1 GAD2 GALC GAPDH GAS1 GCDH GCK GCSH GLA GLB1 GLDC GLO1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNS GPAA1 GPC1 GPC3 GPX1 GYS2 HACD1 HADHA HADHB HEXA HEXB HGSNAT HIBCH HK1 HMGCL HMGCS2 HPGDS HPRT1 HS6ST1 HSD17B4 HSPG2 ICAM1 IDH1 IDH2 IDS IMPA1 INPP5E INPP5K ISYNA1 KL L1CAM L2HGDH LARGE1 LGALS3 LMAN2L LPL LSS MAN1B1 MANBA MBL2 MBOAT7 MCAT MDH2 ME1 ME2 MGAT1 MGAT2 MGLL MICA MLYCD MMUT MOGS MPI MRC1 MTM1 MYORG NAGA NAGLU NANS NDST1 NEU1 NGLY1 NPL NRN1L NSDHL NT5E NTNG1 OCRL OGA PAFAH1B1 PARP1 PC PCCA PCCB PCK1 PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGH PIGL PIGM PIGN PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCG1 PLD1 PLD2 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRNP PRPS1 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RFT1 RGMA RPIA RXYLT1 SACM1L SC5D SDHA SDHC SDHD SEMA7A SGPL1 SGSH SHMT1 SIGLEC7 SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35F1 SLC35G1 SLC39A8 SLC3A1 SMC3 SMUG1 SRD5A3 ST3GAL3 ST8SIA2 STS STT3B SUCLA2 SUCLG1 SUMF1 SYNJ1 TECR TGDS TIGAR TMED9 TMTC3 TNF TPI1 TUSC3 UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B7 UGT8 VCAM1	10020 100507436 10159 10195 10329 10466 10559 10585 10682 10724 10908 1103 1116 1119 1120 11253 11332 11343 1178 1203 123904 128869 1312 132158 1374 1376 138050 142 145173 148789 152330 1543 1544 1555 1557 1559 1571 1576 1577 1583 1588 1593 159371 160418 1605 1629 1636 1650 1718 1727 1738 175 1798 18 1892 197258 201595 2026 2131 2132 2203 2218 2222 222553 224 2271 22796 22854 229 22908 22934 23236 23417 23443 2348 23483 23545 23556 23583 23600 246 249 2517 2530 2538 2539 2571 2572 2581 2597 2619 26275 2639 2645 26503 2653 27036 2717 2719 2720 27255 27306 2731 27349 2739 275 2752 2760 2799 28 2817 284098 285203 285362 2876 2923 29925 29926 29929 29954 2998 3030 3032 3073 3074 3098 3155 3158 3251 3295 3339 3340 3383 34 3417 3418 3423 35 353 36 3612 375790 38 3897 3958 4023 4047 4051 410 412 4126 414 4153 4191 4199 4200 4245 4247 427 43 4329 4351 4360 440138 4534 4594 4668 4669 4758 477 4907 4952 50 501 5048 50814 5091 5095 5096 51 5105 51227 5130 51477 5160 51604 51763 523 5230 5238 5277 5279 5283 5290 5291 5293 5294 5310 5319 5320 5321 5329 5335 5337 5338 5373 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 5476 54872 54936 55224 5538 55500 55624 55650 55768 56052 5621 5631 5660 56623 56886 56963 57103 5716 5728 5742 5743 57462 57511 593 594 6296 6309 6389 6391 6392 64116 6448 64581 6470 6487 6515 6519 6785 6900 7124 7167 729920 7355 7357 7364 7366 7368 7412 781 7841 79143 79147 7915 7957 79644 79709 79796 79868 7991 79944 79947 80055 8050 80896 8128 81562 8398 8399 84197 8434 84342 847 8482 84892 84992 8526 8527 85365 8540 8560 8644 8733 8802 8803 8818 8867 8879 9091 9126 91869 9197 9200 9215 9254 93183 93210 9365 9394 94005 9487 9488 952 9524 9536 960 9896 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3118	hepatobiliary disease Aliases: liver and biliary tract disease	AKR1B1	231	Homo sapiens (human)	DisGeNET
DOID:2751	glycogen storage disease VIII Aliases: Glycogen storage disease 8 glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency	G6PC1 GGT1	2538 2678	Homo sapiens (human)	DisGeNET
DOID:0050689	brachydactyly-syndactyly syndrome	MBOAT1	154141	Homo sapiens (human)	DisGeNET
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL6A1 DAG1 FKRP HSPG2	1291 1605 3339 79147	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)	DisGeNET
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)	DisGeNET
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10541	microinvasive gastric cancer Aliases: Surface gastric cancer early gastric cancer	ACE CD44 CEACAM5 CEACAM7 FASN L1CAM MDGA2 PTEN PTGS2 SMUG1	1048 1087 161357 1636 2194 23583 3897 5728 5743 960	Homo sapiens (human)	DisGeNET
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)	DisGeNET
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:7378	pituitary hypoplasia	SRD5A3	79644	Homo sapiens (human)	DisGeNET
DOID:4394	reticulohistiocytic granuloma Aliases: Reticulohistiocytoma solitary reticulohistiocytoma	KLRK1 LYZ MTAP	22914 4069 4507	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	CEACAM5 CEACAM7 CHPT1 DHDDS	1048 1087 56994 79947	Homo sapiens (human)	DisGeNET

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