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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **12801 - 12825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:12119	hemosiderosis Aliases: haemosiderosis	Cp	12870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050711	aceruloplasminemia	Cp	12870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110034	X-linked Alport syndrome Aliases: nephropathy and deafness, X-linked	COL4A5	1287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2	128674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070505	mitochondrial complex IV deficiency nuclear type 20 Aliases: MC4DN20	Cox5a	12858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060340	ciliopathy	4933427D14Rik Arl6 Cc2d1a Cep290 Cox5a Pkd2 Spry2 Tmem67	12858 18764 212139 216274 24064 329795 56297 74477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 Cox5a	12858 17708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070501	mitochondrial complex IV deficiency nuclear type 16 Aliases: MC4DN16	Cox4i1	12857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11801	protein-energy malnutrition	Cox4i1 Lipc	12857 15450	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	COL4A3 MYH9	1285 4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	ACE ADM AGT AGTR2 ALOX15 ANXA5 AXL BDKRB1 C1QA C3 C6 CCL1 CCL7 CD163 CD59 CFI CNDP1 COL4A3 CSF1 CX3CL1 EP300 F2 FBN1 FCGR2B FCGR3A FN1 FOS GAS6 GDNF IFNG IL1RN ITGA3 ITGB1 ITGB3 KLKB1 LTBP1 LTC4S MMP3 MPO MS4A1 NGF NPPA PDGFB PDGFD PLA2G7 PRF1 PTAFR SERPINE1 SPP1 TBXAS1 TF TNFRSF1A TNFRSF1B TPO VCAM1 VEGFA	1285 133 1435 1636 183 186 2033 2147 2200 2213 2214 2335 2353 246 2621 2668 308 3426 3458 3557 3675 3688 3690 3818 4052 4056 4314 4353 4803 4878 5054 5155 5551 558 5724 623 6346 6354 6376 6696 6916 7018 712 7132 7133 7173 718 729 7412 7422 7941 80310 84735 931 9332 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	COL4A3 COL4A4 COL4A5 HLA-DRB1 MMP3	1285 1286 1287 3123 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081242	autoimmune interstitial lung, joint, and kidney disease Aliases: Autoimmune interstitial lung disease-arthritis syndrome COPA syndrome	Copa	12847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	Comt	12846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	Comt	12846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	Comt	12846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	Comt Oprk1 Oprm1	12846 18387 18390	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:631	fibromyalgia	Ccl2 Comt Il1rn	12846 16181 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12399	pathological gambling Aliases: Compulsive gambling	Comt Drd4 Htr2a	12846 13491 15558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources

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