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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 **8026 - 8050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	Igf2r	16004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	adm-2	181489	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1210	optic neuritis	AQP4 CAT CCR5 HLA-DQB1 HLA-DRB1 MOG NEFH SOD2	1234 3119 3123 361 4340 4744 6648 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	wfs1	42679	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	PHC1	1911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081400	autosomal dominant distal hereditary motor neuronopathy 11	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081182	autosomal recessive intellectual developmental disorder 6	glr-1	176204	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080519	PAPA syndrome Aliases: pyogenic arthritis, pyoderma gangrenosum and acne	PSTPIP1	9051	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111376	fetal akinesia deformation sequence syndrome 3 Aliases: FADS3	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	Ifng Il10 Tnf	24835 25325 25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10316	pneumoconiosis	CAT HLA-DQB1	3119 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	Ogg1	81528	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	Acer Ance-3 Ance Appl Atg6 Fas2 Gapdh1 Gapdh2 Glut1 Hsp110 Nmdar1 Ogg1 Parp1 Ptp99A Sod3 sgg smo tor vn	31002 31248 31364 31806 32545 33196 3355109 34189 34805 34808 35717 35728 36232 38109 38657 39557 40665 42850 43469	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080336	mitochondrial DNA depletion syndrome 14	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:12119	hemosiderosis Aliases: haemosiderosis	Cp	12870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Bcan Car4 Cnga1 Fgfr2 Grin2b Gucy2d Hgf Hk1 Impg1 Kl Ngf Opn4 Pomgnt1 Prph2 Rho Slc6a6 Vegfa	192223 24410 24446 24717 25022 25058 25393 25534 29242 29464 310738 362567 66014 79222 83504 83785 85259	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	GluRIA Taf4 tay trx	32547 38742 39765 41737	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3965	Merkel cell carcinoma Aliases: Trabecular adenocarcinoma trabecular carcinoma	Cd68	12514	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	asphd2	100216215	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060210	amyotrophic lateral sclerosis type 19 Aliases: ALS19 amyotrophic lateral sclerosis 19	Erbb4	13869	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8432	polycythemia Aliases: Erythrocythemia	ACE EPAS1 EPOR HBB SERPINE1	1636 2034 2057 3043 5054	Homo sapiens (human)	Alliance of Genome Resources

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