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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 **8926 - 8950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	Med15 Mrpl40 Pi4ka Snap29	18100 224020 67474 94112	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	Mef2c	17260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	Megf10	70417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	Megf10	70417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	Megf8 Rab23	19335 269878	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	17289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	65037	Rattus norvegicus (Norway rat)	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
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	Mesd	67943	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	17294	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: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:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	Met	17295	Mus musculus (house mouse)	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	24553	Rattus norvegicus (Norway rat)	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: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:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	Mfrp Myrf Nog	18121 225908 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: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: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: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:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	Mfsd8	72175	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	217664	Mus musculus (house mouse)	Alliance of Genome Resources

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