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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 **301 - 325** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	ACHE APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MDH1 MGAM PRNP PYGL PYGM SI SLC37A4	1581 2538 2542 2632 2992 2998 353 4190 43 5621 5836 5837 6476 8972	Homo sapiens (human)
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ABO AKR1D1 ALDOB AMACR COG6 CYP2B6 ENO2 FH G6PD HK1 HSD3B7 LPL NT5E PGK1 PRKAA2 SELP SLC17A5 SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS XYLT2	1555 2026 2271 229 23600 2539 26503 28 3098 4023 4907 5230 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57511 6403 64132 6718 7355 7372 80270	Homo sapiens (human)
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	ALG9 CHAT CNTN6 COMT ENO2 GPC5 HEXD HK1 HPGDS IL1R1 LCT LYPD6 OGA PARP1 PARP9 PKM	10724 1103 130574 1312 142 2026 2262 27255 27306 284004 3098 3554 3938 5315 79796 83666	Homo sapiens (human)
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	PTGS2	5743	Homo sapiens (human)
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E PLCD3 SLC26A2	1109 113026 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:9808	Goodpasture syndrome Aliases: anti-GBM disease anti-glomerular basement membrane disease	ABO ACE B3GAT1 CEL CHI3L1 CYP19A1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1588 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT ICAM1 TNF	3383 7124 847	Homo sapiens (human)
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 TNF TP53 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7124 7157 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370	Homo sapiens (human)
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	IDS	3423	Homo sapiens (human)
DOID:0060833	Griscelli syndrome type 2 Aliases: GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome	GLUL IDS	2752 3423	Homo sapiens (human)
DOID:0060834	Griscelli syndrome type 3 Aliases: GS3 Griscelli-Prunieras syndrome type 3	IDS	3423	Homo sapiens (human)
DOID:0060831	Griscelli syndrome Aliases: Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome partial albinism-immunodeficiency syndrome	FCGR3B IDS	2215 3423	Homo sapiens (human)
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	ABAT ACE ACHE ALOX5 CAT CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GBA1 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP PTEN SARM1 SIGLEC7 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 18 2131 2132 23098 23583 240 26035 2629 2675 27036 2731 43 4680 54732 5621 5660 5728 6484 8398 847 84750 8803	Homo sapiens (human)
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	CNTN1 CNTN2 CSGALNACT1 ENO2 FCGR3B GALE GBE1 GLO1 HPRT1 ICAM1 ISYNA1 MAG MBL2 MRC1 PKD1 PLA2G1B PLB1 PTGDS PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 2632 27036 27090 27180 2739 3251 3383 4099 4153 4360 51477 5310 5319 55512 55790 5730 5742 5743 6610 6900	Homo sapiens (human)
DOID:713	HCL-V Aliases: Hairy cell leukaemia variant Hairy cell leukemia variant	ACSBG1 ANXA5 B3GAT1 CD1D CD22 CD44 CYP19A1 ENPP1 HEXB NCAM1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1588 23205 23583 27087 3074 308 4684 4706 5167 5290 5291 5293 5294 912 933 960	Homo sapiens (human)
DOID:13133	HELLP syndrome	GAPDH HADHA HPGDS HSPG2 IL18R1 MBL2 SIRT4 SLC17A5	23409 2597 26503 27306 3030 3339 4153 8809	Homo sapiens (human)
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:4534	Hallermann-Streiff syndrome Aliases: Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome	ICAM1	3383	Homo sapiens (human)
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	BAAT CAT CHI3L1 ICAM2 IL1R1 IL1RL1 LGALS3 MBD4 MRC1 MUTYH NAAA PTGS1 PTGS2 SLC35D3 TM7SF2 VCAM1	1116 27163 3384 340146 3554 3958 4360 4595 570 5742 5743 7108 7412 847 8930 9173	Homo sapiens (human)

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