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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 **76 - 100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM MTM1 PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SDHB SI SORD SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 4534 51763 5286 5373 54344 5553 55624 56983 6383 6390 6476 6652 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	Akr1b1 Chi3l1 Lepr Tlr4	24192 24536 29260 89824	Rattus norvegicus (Norway rat)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	ACHE AKR1C4 CD14 CD38 CEACAM5 CHAT CHI3L1 GGT1 LIPA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1 SUCLA2 VCAM1	1048 1103 1109 1116 142 23583 2678 3988 43 5290 5291 5293 5294 5743 7412 8803 929 952	Homo sapiens (human)
DOID:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	poglut1 pomt2	563878 641495	Danio rerio (zebrafish)
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	ACOX1 ATP6V1A CHSY1 DHDDS MBL2 PIGL PIK3C2A PLD2 SYNJ1 XYLT1	22856 4153 51 523 5286 5338 64131 79947 8867 9487	Homo sapiens (human)
DOID:8029	sporadic breast cancer	ABO ACHE COMT CYP1A1 DHRS11 HMMR HPGDS HSD17B1 HSD17B2 HSD17B7 MRC1 OGG1 PARP1 PIK3CA PTEN SIRT6 VTCN1	1312 142 1543 27306 28 3161 3292 3294 43 4360 4968 51478 51548 5290 5728 79154 79679	Homo sapiens (human)
DOID:3098	small cell sarcoma	CD38	952	Homo sapiens (human)
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	ACE CAT CD14 CEL CHI3L1 CHIT1 CYP21A2 CYP27B1 EPHX2 FCGR3B IL18R1 LGALS1 LYZ MANBA MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTGS2 RECK SELE SLC27A5 SMUG1 SOAT1 ST8SIA4 VTCN1	1056 10998 1116 1118 151056 1589 1594 1636 2053 2215 23583 3956 4069 4126 4360 4684 5290 5291 5293 5294 5743 6401 6646 7903 79679 83666 8434 847 8809 929	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	C14B9.8	176149	Caenorhabditis elegans
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	Akt1 Chi3l1 Comt Ogg1 Pik3ca Tnf Tymp Ugt1a1	11651 12654 12846 18294 18706 21926 394436 72962	Mus musculus (house mouse)
DOID:0060327	omphalocele Aliases: omphalocoele	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	CTS2	851977	Saccharomyces cerevisiae S288C
DOID:2297	leptospirosis Aliases: Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice	ACAT1 ACHE FUT4 ICAM1 LGALS3 MBL2 SELE	2526 3383 38 3958 4153 43 6401	Homo sapiens (human)
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	Adipoq Ogg1 Tnf Trp53	11450 18294 21926 22059	Mus musculus (house mouse)
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)
DOID:1596	depressive disorder Aliases: mental depression	sgg	31248	Drosophila melanogaster (fruit fly)
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	galc.L	446948	Xenopus laevis (African clawed frog)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Ndst1	15531	Mus musculus (house mouse)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	ARSA ASAH1 CHIT1 DEGS1 EBP GALC GLB1 IDUA IGF2R PLA2G1B PLB1 PSAP	10682 1118 151056 2581 2720 3425 3482 410 427 5319 5660 8560	Homo sapiens (human)
DOID:9505	cannabis abuse Aliases: marijuana abuse	Comt	12846	Mus musculus (house mouse)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ext1	448393	Xenopus tropicalis (tropical clawed frog)
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)

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