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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 **3051 - 3075** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0081363	distal myopathy with rimmed vacuoles	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081361	spastic quadriplegic cerebral palsy 3 Aliases: CPSQ3	ADD1 ADD2 ADD3	118 119 120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081360	spastic quadriplegic cerebral palsy 2	KANK1	23189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081359	epidermolytic hyperkeratosis 2	KRT10	3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	CACNA1S	779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081344	congenital myopathy 9B	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081343	congenital myopathy 9A	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081337	congenital myopathy	HACD1 LDB3 MYBPC1	11155 4604 9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081333	Wiedemann-Rautenstrauch syndrome Aliases: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081330	glycogen storage disease Ib	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	SLC25A33	84275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD2	1106	Homo sapiens (human)	Alliance of Genome Resources

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