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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 **1651 - 1675** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081330	glycogen storage disease Ib	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	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:0081337	congenital myopathy	HACD1 LDB3 MYBPC1	11155 4604 9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	ACTA1	58	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:0081342	congenital myopathy 8	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081343	congenital myopathy 9A	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081344	congenital myopathy 9B	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	CACNA1S	779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081359	epidermolytic hyperkeratosis 2	KRT10	3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081360	spastic quadriplegic cerebral palsy 2	KANK1	23189	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:0081363	distal myopathy with rimmed vacuoles	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081365	Paget's disease of bone 2 Aliases: Paget disease of bone-2	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081366	Paget's disease of bone 3 Aliases: Paget disease of bone-3	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081368	Paget's disease of bone 5 Aliases: Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5	TNFRSF11B	4982	Homo sapiens (human)	Alliance of Genome Resources

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