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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 **551 - 575** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)
DOID:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:0050990	episodic ataxia type 2	PRKCSH	5589	Homo sapiens (human)
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	ADH1C HPGDS HSD11B1 PKD2 PRKCSH SFTPC	126 27306 3290 5311 5589 6440	Homo sapiens (human)
DOID:0060000	infective endocarditis	Tlr6	21899	Mus musculus (house mouse)
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)
DOID:0060001	withdrawal disorder	COMT GAD1 GAD2 HTR2A	1312 2571 2572 3356	Homo sapiens (human)
DOID:0060001	withdrawal disorder	Comt Htr2a	24267 29595	Rattus norvegicus (Norway rat)
DOID:0060001	withdrawal disorder	Comt Htr2a	12846 15558	Mus musculus (house mouse)
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060036	intrinsic cardiomyopathy	RpS3	42761	Drosophila melanogaster (fruit fly)
DOID:0060041	autism spectrum disorder	ext1a ext1b ndst1a ndst1b ndst2a ndst2b ndst3	100317129 100329944 497279 497280 570459 793524 798226	Danio rerio (zebrafish)
DOID:0060041	autism spectrum disorder	hst-1 rib-1	177675 178080	Caenorhabditis elegans
DOID:0060041	autism spectrum disorder	Comt Ext1 Htr2a Ndst1 Ndst2 Ndst3 Ndst4	114002 24267 295430 29595 29633 299907 362035	Rattus norvegicus (Norway rat)
DOID:0060041	autism spectrum disorder	ext1 ndst1 ndst2 ndst3 ndst4	100145653 100217321 100380006 448393 496577	Xenopus tropicalis (tropical clawed frog)
DOID:0060041	autism spectrum disorder	ABAT ACACA ACAN ACSM3 ALDH1A3 AMT AMY1A AMY1B AMY1C ARSA ARSD B3GLCT BST1 CAT CD38 CDH13 CHAT CLEC7A CNTN2 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 GAD1 GAD2 GALNT17 GLO1 GLUL HAGH HPGDS HTR2A IDS IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LYZ MACROD2 MBOAT7 MRC1 NCAM1 NDST1 NDST2 NDST3 NDST4 NTM OGG1 PAFAH1B1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4C PLAUR PLCB1 POMGNT1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC4 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SOAT1 ST8SIA2 STS TM7SF2 TPI1 UGT1A1 UPP2	1012 10728 1103 11141 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1593 1717 1718 176 18 2026 2053 2131 220 2271 23236 23443 2348 2350 2571 2572 26280 27255 27306 2739 275 2752 276 277 278 3029 31 3340 3356 3423 3556 3897 3945 3992 4069 410 412 414 4360 4684 4968 5048 50863 5130 5290 5291 5293 5294 5311 5329 53942 54658 54898 55624 5728 5742 5743 6296 6319 6385 64409 64579 64581 65078 6515 6646 683 6900 7108 7167 79143 8128 81579 847 8509 8604 8605 9197 9348 9415 952 9536 9993	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	aralar1 sfl ttv	36614 38736 43616	Drosophila melanogaster (fruit fly)
DOID:0060041	autism spectrum disorder	Comt Ext1 Htr2a Ndst1 Ndst2 Ndst3 Ndst4 Wdfy3	12846 14042 15531 15558 17423 64580 72145 83398	Mus musculus (house mouse)
DOID:0060046	aphasia	CPM L1CAM PRNP	1368 3897 5621	Homo sapiens (human)
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)

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