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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 **4501 - 4525** of **4649** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J Aliases: LGMD2J muscular dystrophy, limb-girdle, type 2J	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	TTR	7276	Homo sapiens (human)	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	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080918	polymicrogyria	TUBA1A TUBA1B TUBA1C TUBA4A WDR62	10376 284403 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112232	lissencephaly 3 Aliases: LIS3	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112234	microlissencephaly	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:2490	congenital nervous system abnormality Aliases: congenital neurologic anomaly	TUBA1A	7846	Homo sapiens (human)	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	7277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090136	complex cortical dysplasia with other brain malformations 6 Aliases: CDCBM56	TUBB	203068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112242	congenital symmetric circumferential skin creases 1 Aliases: CSCSC1	TUBB	203068	Homo sapiens (human)	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	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:13934	facial paralysis Aliases: Facial Palsy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090102	autosomal dominant macrothrombocytopenia TUBB1-related	TUBB1	81027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090135	complex cortical dysplasia with other brain malformations 5 Aliases: CDCBM5	TUBB2A	7280	Homo sapiens (human)	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	10381	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	TUBB3	10381	Homo sapiens (human)	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	10382	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources

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