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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 **5251 - 5275** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	CYP51A1 G6PD GALE GALK1 GALM GALT GP2 LGALS1 UGP2 UGT8	130589 1595 2539 2582 2584 2592 2813 3956 7360 7368	Homo sapiens (human)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	298003	Rattus norvegicus (Norway rat)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	33935	Drosophila melanogaster (fruit fly)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	ZK1058.3	175506	Caenorhabditis elegans
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GAL7	852306	Saccharomyces cerevisiae S288C
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Slc25a13	50799	Mus musculus (house mouse)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:0060340	ciliopathy	Arl6	56297	Mus musculus (house mouse)
DOID:4353	ciliary body disease	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	AKR1C3 TNF	7124 8644	Homo sapiens (human)
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	Tnf	21926	Mus musculus (house mouse)
DOID:0060357	chylomicron retention disease Aliases: Anderson disease CMRD	AGA AMT ARSA ARSB ASAH1 CHIT1 CTSA CYP27A1 DGAT1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GPIHBP1 GUSB ICAM1 IDS IDUA LCAT LGALS3 LPL LSS MANBA MGAM NAGA NAGPA NT5E OGA PNPLA2 PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 UGCG UGT1A1 UMOD VCAM1	10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 275 2990 3383 338328 3423 3425 3931 3958 4023 4047 410 411 4126 427 4668 4907 51172 54658 5476 57104 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 84572 8694 8972 9415	Homo sapiens (human)
DOID:3530	chronic wasting disease	PRNP	5621	Homo sapiens (human)
DOID:0050853	chronic venous insufficiency	CAT	847	Homo sapiens (human)
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	CLEC7A DCN GALNS GBE1 ICAM1 IDH1 IDH2 NCAM1 OCRL OGT PGM3 PIGL PIK3CA PIK3CB PIK3CD	1634 2588 2632 3383 3417 3418 4684 4952 5238 5290 5291 5293 64581 8473 9487	Homo sapiens (human)
DOID:10600	chronic tic disorder Aliases: chronic motor or vocal tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:10793	chronic sphenoidal sinusitis Aliases: Sphenoidal sinus-chr.	CHI3L1 CLC CYP11A1 CYP11B1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IL1RL1 LYZ PGM3 PLB1 PTGDS PTGS1 SELE SFTPA1 SFTPD	10855 1116 1178 151056 1583 1584 27306 3290 3291 3383 4069 5238 5730 5742 6401 6441 653509 9173	Homo sapiens (human)
DOID:12265	chronic salpingo-oophoritis Aliases: chronic salpingitis and oophoritis chronic salpingitis/oophoritis	MSLN	10232	Homo sapiens (human)
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	NT5E	4907	Homo sapiens (human)
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1r1	16177	Mus musculus (house mouse)
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	CPT1B IL1R1 LPIN2 PIGN RPE	1375 23556 3554 6120 9663	Homo sapiens (human)

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