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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 **1726 - 1750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	TYR	7299	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:0110985	Joubert syndrome 16 Aliases: JBTS16	Tmem138	72982	Mus musculus (house mouse)	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	72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050962	spinocerebellar ataxia type 12	Ppp2r2b	72930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111935	immunodeficiency 16 Aliases: IMD16 OX40 deficiency combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8	TNFRSF4	7293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A	Hepacam	72927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B Aliases: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	Hepacam	72927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080538	Sweeney-Cox syndrome	TWIST1	7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060299	complement component 6 deficiency	C6	729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	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:0070279	primary autosomal recessive microcephaly 14 Aliases: MCPH14	Sass6	72776	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	7277	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:6212	ovarian endometrial cancer Aliases: endometrioid neoplasm of Ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm	Arhgef10l	72754	Mus musculus (house mouse)	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:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	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:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110315	hypertrophic cardiomyopathy 9 Aliases: CMH9 cardiomyopathy, familial hypertrophic, 9	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources

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