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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 **801 - 825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:8717	decubitus ulcer Aliases: Decubitus (pressure) ulcer Decubitus ulcer any site pressure sores pressure ulcer	ACSS2 CBR1 CHPT1 DHDDS PLA2G15 PTGS2	23659 55902 56994 5743 79947 873	Homo sapiens (human)
DOID:848	arthritis Aliases: Inflammatory disorder of joint	Parp1 Tl	3355109 43222	Drosophila melanogaster (fruit fly)
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	bre-4	190668	Caenorhabditis elegans
DOID:349	systemic mastocytosis Aliases: SMCD - systemic mast cell disease systemic tissue mast cell disease	CALR CD33 CD38 CEL ETNK1 FCER2 FH SMPD1	1056 2208 2271 55500 6609 811 945 952	Homo sapiens (human)
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 1374 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)
DOID:0050642	hypochromic microcytic anemia	Tnf	21926	Mus musculus (house mouse)
DOID:11665	Patau syndrome Aliases: D1 Trisomy trisomy 13	ALDH2 CALR CD38 CD55 CHPT1 CYP19A1 DHDDS EBP GK IDUA IL1RAPL1 LGALS1 PARP1 PNPLA6 SOAT1 STS	10682 10908 11141 142 1588 1604 217 2710 3425 3956 412 56994 6646 79947 811 952	Homo sapiens (human)
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	C33G3.4	181517	Caenorhabditis elegans
DOID:13777	epidermodysplasia verruciformis	FCGR3B PTEN PTGS2 SCD SDCBP2 STS STT3A TM7SF2	2215 27111 3703 412 5728 5743 6319 7108	Homo sapiens (human)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	CG31115 CG8668 CG8673 Hs3st-B Mgat4a Mtap Ogg1 Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2 alpha4GT1 alpha4GT2 brn	31358 31806 318597 32918 33512 34105 34107 35105 35137 35138 35139 36955 39608 40079 41334 41574 42538 43124 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	42146	Drosophila melanogaster (fruit fly)
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1	446213	Danio rerio (zebrafish)
DOID:11189	pulp degeneration	GALNT3	2591	Homo sapiens (human)
DOID:681	progressive bulbar palsy	AGRN ARSA CHAT GAL3ST1 SLC35A1	10559 1103 375790 410 9514	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	Trp53	22059	Mus musculus (house mouse)
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	fktn	100006345	Danio rerio (zebrafish)
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)
DOID:936	brain disease Aliases: encephalopathy	Eno2	24334	Rattus norvegicus (Norway rat)
DOID:12450	pancytopenia	ADH5 ALDH2 CALR CD1D CD48 COG6 CPT2 DGKZ FUT1 G6PC3 G6PD GBA1 GLB1 GPI IDS KLRK1 LIPA MMUT PCCA PCCB PGM3 PTEN PTGDS SLC17A5 TALDO1 TBXAS1 VCAM1	128 1376 217 22914 2523 2539 2629 26503 2720 2821 3423 3988 4594 5095 5096 5238 5728 5730 57511 6888 6916 7412 811 8525 912 92579 962	Homo sapiens (human)
DOID:10024	migraine with aura Aliases: classic migraine	ACE ATP1A2 CAT PMM2	1636 477 5373 847	Homo sapiens (human)
DOID:2710	sick building syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	Ins1 Ins2	24505 24506	Rattus norvegicus (Norway rat)
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)

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