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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 **2276 - 2300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	W01C8.5 hda-4 ver-1 ver-4	175182 180836 181723 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	Tecta	21683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	Mark1 Mark2 Mark3 Mark4	13728 17169 226778 232944	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	rft-2	178842	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	F8 Itga2 Vwf	14069 16398 22371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	rnf43	100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	TSHB	7252	Homo sapiens (human)	Alliance of Genome Resources
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	AQP4 CD59 HLA-DQB1 HLA-DRB1 IL21 IL6 MMP9 NEFH NEFL	3119 3123 3569 361 4318 4744 4747 59067 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	Arsa Psap	11883 19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	WNT10B	7480	Homo sapiens (human)	Alliance of Genome Resources
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ABCD1 ABCD2 ABCD3 ACSBG1 ACSBG2 ELOVL1 ELOVL7 MMP2 MMP9 TIMP1	215 225 23205 4313 4318 5825 64834 7076 79993 81616	Homo sapiens (human)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	Atg6 sgg	31248 42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7596	asbestos-related lung carcinoma	adm-2	181489	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	wif1.S	399375	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	Eno Jarid2 Octbeta2R sxc	33351 35486 39103 41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050639	primary cutaneous amyloidosis Aliases: PCA familial primary localized cutaneous amyloidosis	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	MYO9A	4649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	GPI13	850628	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	Acta1 Actb Actc1	29275 29437 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110377	retinitis pigmentosa 49 Aliases: RP49	CngA	36806	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	erlin2.L erlin2.S	444675 495100	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080946	retinal dystrophy with leukodystrophy Aliases: ACBD5 deficiency	Acbd5	74159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	Ace Add1 Agtr1a Agtr1b Agtr2 C3 Ccl2 Cd14 Cxcr2 Fas Fcgr3a Havcr1 Igf1r Il1rn Lcn2 Ngf Sele Sell Shh Timd2 Tnf Tnfrsf1a Tnfrsf1b	156767 170496 24170 24180 24182 24232 24310 246097 24770 24835 25544 25625 25718 286934 287222 29259 29385 29499 304966 310738 60350 60582 81638	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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