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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 **14751 - 14775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	dbl-1 sma-6	174044 179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	IGF2	3481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	PYCR1 PYCR2	29920 5831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	Cd36	12491	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)	Alliance of Genome Resources
DOID:11664	nephrosclerosis Aliases: renal sclerosis	Adrb1 Ptgds	24925 25526	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	Gdf6	242316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	B3galt6 B4galt7 Col1a1 Col1a2 Col3a1 Dcn Tgfb1	29139 29393 298690 364675 59086 84032 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081386	TANGO2-related metabolic encephalopathy and arrythmias Aliases: TANGO2 deficiency metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	TANGO2	128989	Homo sapiens (human)	Alliance of Genome Resources
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	Akt1	11651	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	W01F3.2 ace-1 ace-2 ace-3 atg-18 cri-2 dop-1 glr-1 glt-1 glt-3 glt-6 gpx-3 gpx-5 parp-1 skn-1 timp-1 zmp-2 zmp-4	171905 175076 175383 176204 177343 177882 179197 179199 179246 179991 180351 180641 180714 181178 181706 182513 187623 266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 mAChR-A shf	31617 31926 34978 34979 34981 36868 37104 37892	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081015	congenital fibrosis of the extraocular muscles 1	Kif21a	16564	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:670	amphetamine abuse	Akt1 Bdnf Cd4 Cd8a Cfh Cfhr4 Comt Fos Gabbr1 Gabrg2 Gad1 Gria1 Map3k15 Npy1r Slc18a1 Slc18a2 Snca	110877 11651 12064 12504 12525 12628 12846 14281 14406 14415 14799 18166 20617 214084 214403 270672 54393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	KRAS MAP2K1	3845 5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:9790	toxocariasis Aliases: Infection by Toxascaris Toxocara infection visceral larva migrans	Il4	16189	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060939	dystonia 32 Aliases: DYT32	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:11678	onchocerciasis Aliases: Infection by Onchocerca volvulus Onchocerca volvulus infection volvulosis	HLA-DPA1 HLA-DQA1 IL13	3113 3117 3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Glys Pdfr Pxn	31234 38326 41823	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	Plcd1	18799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	Aqp5	25241	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	EUG1 PDI1	850314 852130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	gba-3 gba-4	177314 178535	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	12279	Mus musculus (house mouse)	Alliance of Genome Resources

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