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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 **7001 - 7025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	Mipp1	39841	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Mipp1 fs(1)h	31722 39841	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	Minpp1	29688	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	Minpp1	17330	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111499	combined oxidative phosphorylation deficiency 37 Aliases: COXPD37	Micos13	224904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	94273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	43563	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	217664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	Mfsd8	72175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	Mfsd2a	76574	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	Mfrp	259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	Mfrp Prph2 Rho	19133 212541 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080634	nanophthalmos	Mfrp Myrf	225908 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	Mfrp Myrf Nog	18121 225908 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	Mfap4 Rai1	19377 76293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	Met	24553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	Met	24553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	Met	24553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	Met	17295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	Met	17295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	Met Prcc	17295 94315	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	Mest	58827	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	Mest	17294	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	Mesd	67943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	Mesd	308796	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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