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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 **7076 - 7100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:8465	retinoschisis	Tyr	22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	Tyr	22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	Tyrp1	22178	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies Aliases: DEVDFB	U2af2	22185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080828	VEXAS syndrome Aliases: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050958	spinocerebellar ataxia type 7	ATXN7 ATXN7L1	222255 6314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	Ugdh	22235	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS MVD MVK	2224 4597 4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	Cad Umps	22247 69719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	Ung	22256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Aliases: SSFSC	SCUBE3	222663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	Pmpcb Uqcrc1	22273 73078	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050439	Usher syndrome	Arsg Clrn1 Ush2a	22283 229320 74008	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	Ush2a	22283	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110838	Usher syndrome type 2A Aliases: USH2A Usher syndrome type IIA	Ush2a	22283	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110360	retinitis pigmentosa 39 Aliases: RP39	Ush2a	22283	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	Usp9x	22284	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	Usp9x	22284	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060081	triple-receptor negative breast cancer	Antxr1 Kdm6a	22289 69538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	Kdm6a	22289	Mus musculus (house mouse)	Alliance of Genome Resources

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