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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 **8501 - 8525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	Hsc70-4 Snmp2	38868 41840	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Hsc70-4 Snmp1 Snmp2 Sod3 Spn28Dc Tl dpp	33432 34091 36232 38868 41840 42514 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	Hsc70-4 Ldh Octbeta2R Pfk PyK	36060 41549 41840 42620 45880	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	302489	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	50785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	316325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st	42380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st	42380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st-B Spn28Dc sca	32918 34091 36411	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hrg	94175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hrg Hrgl1	171016 681544	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	Hpse2 Lrig2	269473 545291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	Hp	24464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	Hnrnpu	51810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	Hnrnpk	15387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	Hnrnph2	56258	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111189	distal myopathy 3 Aliases: MPD3 distal muscular dystrophy 3 distal myopathy type 3	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060211	amyotrophic lateral sclerosis type 20 Aliases: ALS20 amyotrophic lateral sclerosis 20	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	Hnrnpa1 Hnrnpa3	15382 229279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081214	autosomal recessive intellectual developmental disorder 51	Hnmt	140483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	Hmgcs2	15360	Mus musculus (house mouse)	Alliance of Genome Resources

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