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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 **4626 - 4650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:4189	mutism	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060244	specific language impairment	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4186	articulation disorder Aliases: Articulation impairment Phonological disorder	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11257	social phobia	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	Coch	12810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	Coch	12810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	Cog6	67542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	Col11a1 Col11a2 Col2a1	12814 12815 12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	Col11a1 Col2a1	25412 25654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	Col11a1	25654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	Col11a1	25654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	Col11a1	25654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	Col11a1	25654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	Col11a2 Col2a1 Flnb Gdf6 Mthfd1 Nectin1 Ror2 Sdc2 Specc1l	108156 12815 12824 15529 242316 26564 286940 58235 74392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	Col12a1 Col6a1 Col6a2 Col6a3	12816 12833 12834 12835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110673	congenital myasthenic syndrome 19 Aliases: CMS19	Col13a1	12817	Mus musculus (house mouse)	Alliance of Genome Resources

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