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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 **2801 - 2825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:883	parasitic helminthiasis infectious disease Aliases: helminth infection helminthiasis helminthosis worm infection	ABO AGXT CD38 CLEC7A FCER2 GLB1 IL1RL1 SUCLA2	189 2208 2720 28 64581 8803 9173 952	Homo sapiens (human)
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:1588	thrombocytopenia	ABO ACHE ADH1B ALG8 ASGR1 BAAT C1GALT1 CAT CD209 CD44 CD72 CEACAM5 CLEC1B COG1 COG4 COG6 COMT CYP2C8 CYP3A4 DGKE EFNA5 ELOVL4 EOGT FCGR3B G6PC3 GALE GBA1 GGT1 GNE HPSE HSPG2 KDSR MBD4 MBL2 MMUT MPI MRC1 MYORG NAAA NCAM1 OCRL PCCA PCCB PIK3C2A PIK3CA PIK3CB PIK3CD PMM2 PNLIP PSAP PTEN PTGS1 PTGS2 SC5D SELP SLC17A5 SLC35A1 SOAT1 SPHK2 STT3B TALDO1 TBXAS1 TNF UGT1A1 XYLT2	10020 1048 10559 10855 125 1312 1558 1576 1946 201595 2215 2531 2582 25839 2629 26503 2678 27163 28 285203 30835 3339 4153 43 432 4351 4360 4594 4684 4952 5095 5096 51266 5286 5290 5291 5293 5373 5406 54658 5660 56848 56913 570 5728 5742 5743 57462 57511 6309 6403 64132 6646 6785 6888 6916 7124 79053 847 8526 8930 92579 9382 960 971	Homo sapiens (human)
DOID:4896	bile duct adenocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)
DOID:11204	allergic conjunctivitis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor Aliases: extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour	AGXT LCT	189 3938	Homo sapiens (human)
DOID:0060363	glycerol kinase deficiency	R11F4.1	173747	Caenorhabditis elegans
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	A4gnt Abo Akt1 Aldh1a1 Aldh1a7 B3galt5 Bad Braf Hs3st2 Ins1 Ins2 Mgat4a Mtap Ogg1 Tcf7l2 Trp53 Tymp Ugt1a10 Ugt1a7c Ugt1a8 Ugt1a9	109880 11651 11668 12015 16333 16334 18294 195646 21416 22059 26358 269181 333424 394430 394432 394434 613123 66902 72962 80908 93961	Mus musculus (house mouse)
DOID:10969	hemiplegia Aliases: Infantile hemiplegia Postnatal infantile hemiplegia	ACHE ACSM1 ACSM2A ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 250 2571 26033 2639 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	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:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	CERS3 TNF	204219 7124	Homo sapiens (human)
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKA2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5256 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	CTS2 GCY1 GPX1 GPX2 OGG1 YPR1	851974 851977 852546 853842 854287 854942	Saccharomyces cerevisiae S288C
DOID:0050908	myelodysplastic syndrome	Idh1 Tnf Tp53	24479 24835 24842	Rattus norvegicus (Norway rat)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	chst6.L chst6.S	108715440 444431	Xenopus laevis (African clawed frog)
DOID:6603	Kummell's disease Aliases: Kummell disease Kummell's spondylitis Traumatic spondylopathy	KL	9365	Homo sapiens (human)
DOID:0060702	familial hypocalciuric hypercalcemia 3 Aliases: FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III	CYP24A1	1591	Homo sapiens (human)
DOID:0050833	orotic aciduria	r-l	42493	Drosophila melanogaster (fruit fly)
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	AKR1C2 CACNA2D3 CBR1 CD109 CD44 CEACAM5 CEACAM7 CYP1A1 CYP1A2 CYP1B1 CYP2E1 ENO1 FUT1 GPC3 GPX1 GPX2 GPX6 HJV HK2 HPGDS HYAL3 IDH1 IDH2 IGF2R INPP4B KL LDHA LGALS1 LGALS8 LIPA MASP1 ME1 NCAM1 OGG1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLPP4 PTEN PTGS2 SLC2A2 SQLE	1048 1087 135228 142 148738 1543 1544 1545 1571 1646 196051 2023 2523 257202 2719 27306 2876 2877 3099 3417 3418 3482 3939 3956 3964 3988 4199 4684 4968 5091 5290 5291 5293 5294 55799 5648 5728 5743 6514 6713 8372 873 8821 9365 960	Homo sapiens (human)
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	Lrp5	16973	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	246179	Mus musculus (house mouse)

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