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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 **4151 - 4175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	Slc6a19	664630	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	Slc52a2	52710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080609	anterior segment dysgenesis 4	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	Mast1	56527	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II Aliases: OCA2 Oculocutaneous Albinism, Tyrosinase-Positive	Mc1r Oca2	17199 18431	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN TARDBP	23435 2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	pigt-1	179519	Caenorhabditis elegans	Alliance of Genome Resources
DOID:219	colon cancer	Axn Calr Hs3st-B Jra Wnt5 btl fs(1)h htl sgg smo	31248 31722 32838 32918 33196 36057 39564 41166 42160 43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	asic1a asic1b asic1c asic2 asic4a asic4b epoa pon1 rhoaa rhoab rhoac rhocb sarm1 slc17a6a slc17a6b slc17a8 tpi1a tpi1b tspan36	100004455 100006041 100149756 192309 403143 406411 406659 407667 407668 407669 407670 407672 436718 437021 447803 494492 560753 563467 791696	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	cdh1 comta comtb csf1ra fgfr1a kita myca mycb pdgfra vegfaa wif1	114424 30256 30476 30682 30686 30705 386856 393141 561372 565370 64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	Esr1 Mlh1 Phb1	13982 17350 18673	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Cd151 Dst Krt5 Mmp9 Plec	110308 12476 13518 17395 18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	gfra1a gfra1b	79376 79377	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	Gucy2d	79222	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060340	ciliopathy	Cox5a	252934	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	Brwd1 Cfap74 Dnah5 Pcsk5 Slit2	110082 18552 20563 544678 93871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	45566 W01F3.2 abts-4 cle-1 cri-2 daf-2 ina-1 let-23 ncam-1 ost-1 sup-17 timp-1 zmp-4	172678 172689 172841 174462 175410 176296 176931 179197 179199 179991 180351 180418 180943	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	CCAP-R Egfr GlyT Mvl Sb Tace Tsf2 cora	2768688 37205 37455 37772 39435 41958 42490 43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	chtl-1 nkb-1 nkb-3 scav-3 tmc-1	176673 180809 181494 182726 188483	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070154	hereditary sensory neuropathy type 1F Aliases: HSN1F hereditary sensory neuropathy type IF	Atl3	109168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	kdr vegfaa	30682 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	YBT1	850678	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	Pmp22	24660	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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