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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 **11951 - 11975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	TUBB4B	10383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures Aliases: PAMDDFS	TUBGCP2	10844	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080107	microcephaly and chorioretinopathy 3	TUBGCP4	27229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080105	microcephaly and chorioretinopathy 1	TUBGCP6	85378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080538	Sweeney-Cox syndrome	TWIST1	7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060549	Barber-Say syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111989	immunodeficiency 35 Aliases: IMD35 TYK2 deficiency autosomal recessiv HIES with atypical mycobacteriosis autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis susceptibility to infection due to TYK2 deficiency tyrosine kinase 2 deficiency	TYK2	7297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080119	mitochondrial DNA depletion syndrome 1 Aliases: mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related	TYMP	1890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:8465	retinoschisis	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	TYRP1	7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	Tace Tl	43222 43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	Tace	43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	Tacr1	21336	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	Tacr1	24807	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	Tacr3	21338	Mus musculus (house mouse)	Alliance of Genome Resources

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