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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 **12301 - 12325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J Aliases: LGMD2J muscular dystrophy, limb-girdle, type 2J	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111188	myofibrillar myopathy 9 Aliases: Edstrom myopathy HIBM-ERF HMERF Hereditary inclusion body myopathy with early respiratory failure MFM-titinopathy MFM9 MPRM Myofibrillar myopathy-titinopathy autosomal dominant distal myopathy with early respiratory failure hereditary myopathy with early respiratory failure myofibrillar myopathy 9 with early respiratory failure proximal myopathy with early respiratory muscle involvement	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	Ttr	24856	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	Ttr	24856	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	Ttr	24856	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112234	microlissencephaly	Tuba1a Tuba1b Tuba1c Tuba3a Tuba3b Tuba4a Tuba8	22142 22143 22144 22145 22146 22147 53857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112232	lissencephaly 3 Aliases: LIS3	Tuba1a Tuba1b Tuba1c Tuba3a Tuba3b Tuba4a Tuba8	22142 22143 22144 22145 22146 22147 53857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080918	polymicrogyria	Tuba1a Tuba1b Tuba1c Tuba3a Tuba3b Tuba4a Tuba8	22142 22143 22144 22145 22146 22147 53857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060355	amyotrophic lateral sclerosis type 22 Aliases: ALS 22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22	Tuba4a	22145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	Tuba8 Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 53857 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13934	facial paralysis Aliases: Facial Palsy	Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090135	complex cortical dysplasia with other brain malformations 5 Aliases: CDCBM5	Tubb2a	22151	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Tubb3	22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	Tubb3	22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	Tubb4a	22153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	Tubb4a	22153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	Tubb4b	227613	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090136	complex cortical dysplasia with other brain malformations 6 Aliases: CDCBM56	Tubb5	22154	Mus musculus (house mouse)	Alliance of Genome Resources

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