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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7776 - 7800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	100496603	Xenopus tropicalis (tropical clawed frog)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	496641	Xenopus tropicalis (tropical clawed frog)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	alg14	100379745	Xenopus tropicalis (tropical clawed frog)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3	594895	Xenopus tropicalis (tropical clawed frog)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5 b4galt6	548965 549139	Xenopus tropicalis (tropical clawed frog)
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ugt1a1	100489505	Xenopus tropicalis (tropical clawed frog)
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ogt	553157	Xenopus tropicalis (tropical clawed frog)
DOID:9409	diabetes insipidus	has2	100145711	Xenopus tropicalis (tropical clawed frog)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	100036707	Xenopus tropicalis (tropical clawed frog)
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	ppp1cb ppp1cc tpi1	100038162 407879 496958	Xenopus tropicalis (tropical clawed frog)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	cs plod3	550067 734090	Xenopus tropicalis (tropical clawed frog)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	b4gat1 fkrp fktn large1 pomgnt1 pomt1	100124956 100145309 100158594 100170600 100498555 448433	Xenopus tropicalis (tropical clawed frog)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ugt1a1 ugt1a6 xylt1	100135191 100145490 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	st3gal5	100329191	Xenopus tropicalis (tropical clawed frog)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1	100158594	Xenopus tropicalis (tropical clawed frog)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	alg1	594994	Xenopus tropicalis (tropical clawed frog)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	gys1	100490155	Xenopus tropicalis (tropical clawed frog)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	alg2	595052	Xenopus tropicalis (tropical clawed frog)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1	100487779	Xenopus tropicalis (tropical clawed frog)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 fkrp fktn pomgnt1 pomt1 pomt2 rxylt1	100124956 100145309 100145540 100158594 100170600 100490100 448433	Xenopus tropicalis (tropical clawed frog)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	dgat2	395003	Xenopus tropicalis (tropical clawed frog)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gcnt2.2	100038221	Xenopus tropicalis (tropical clawed frog)
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	fktn	100124956	Xenopus tropicalis (tropical clawed frog)

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