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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 **6351 - 6375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050833	orotic aciduria	Umps	22247	Mus musculus (house mouse)
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	557187	Danio rerio (zebrafish)
DOID:593	agoraphobia Aliases: Fear of open spaces	ACE GAD1	1636 2571	Homo sapiens (human)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	dgat2.L	398800	Xenopus laevis (African clawed frog)
DOID:9975	cocaine dependence	Comt Htr2a Manea Per2 Sirt2	12846 15558 18627 242362 64383	Mus musculus (house mouse)
DOID:178	vascular disease Aliases: vascular tissue disease	ABO ACE ACSL1 ADH1B ADIPOQ AKR1B1 ALDH2 CAT CD38 CHI3L1 CYP19A1 CYP2C9 CYP4F2 DCN DDOST DLAT DLD ENO2 FCGR3B FCN2 FOLR2 G6PD GLA GLO1 GPI HPSE ICAM1 ISYNA1 KL LGALS3 LIPC LIPG LPCAT3 LPL MBL2 NAMPT OLR1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLB1 PNP PRKAA2 PTEN PTGS2 RENBP SELE SELL SLC2A10 SLC2A4 SMUG1 SOAT1 SPHK2 TM7SF2 VCAM1 VCAN	10135 10162 10855 1116 125 1462 151056 1559 1588 1634 1636 1650 1737 1738 2026 217 2180 2215 2220 231 2350 23583 2539 2717 2739 28 2821 3383 3958 3990 4023 4153 4860 4973 5048 51477 5290 5291 5293 5294 5320 5563 56848 5728 5743 5973 6401 6402 6517 6646 7108 7412 7941 81031 847 8529 9365 9370 9388 952	Homo sapiens (human)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	84020	Rattus norvegicus (Norway rat)
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	sgg	31248	Drosophila melanogaster (fruit fly)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Slc25a11	64201	Rattus norvegicus (Norway rat)
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:14768	Saethre-Chotzen syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:12580	Cri-Du-Chat syndrome Aliases: 5p deletion syndrome 5p partial monosomy syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome	IL1RL1 SMUG1	23583 9173	Homo sapiens (human)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Slc25a13	50799	Mus musculus (house mouse)
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	G6pd2 G6pdx Got1 Nampt Ogg1 Pcna Sirt6 Tnf Ucp2	14380 14381 14718 18294 18538 21926 22228 50721 59027	Mus musculus (house mouse)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	25659	Rattus norvegicus (Norway rat)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	850370	Saccharomyces cerevisiae S288C
DOID:4330	non-Langerhans-cell histiocytosis	LYZ NCAM1	4069 4684	Homo sapiens (human)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	24385	Rattus norvegicus (Norway rat)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	hex-1	180533	Caenorhabditis elegans
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	GPI10	852735	Saccharomyces cerevisiae S288C
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	xit	31623	Drosophila melanogaster (fruit fly)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	Alg6	362547	Rattus norvegicus (Norway rat)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	cht-1 ugt-61	180628 185500	Caenorhabditis elegans
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	100144979	Xenopus tropicalis (tropical clawed frog)

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