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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 **8901 - 8925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110243	cataract 46 juvenile-onset Aliases: CTRCT46 juvenilae cataract Hutterite type	LEMD2 LEMD3	221496 23592	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	22145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2490	congenital nervous system abnormality Aliases: congenital neurologic anomaly	Eml1 Tuba1a	22142 68519	Mus musculus (house mouse)	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:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:1389	polyneuropathy	APOA4 FCGR3A HLA-DRB1 IL6 SERPINE1 SOD2 SOD3	2214 3123 337 3569 5054 6648 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:633	myositis Aliases: Inflammatory disorder of muscle	FCGR3A HGF HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-E HLA-F HLA-G IL1RN TNF	2214 3082 3105 3106 3107 3117 3119 3123 3133 3134 3135 3557 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	CXCR4 FCGR3A GPX3 IL10 IL6 IRF4 MYD88	2214 2878 3569 3586 3662 4615 7852	Homo sapiens (human)	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:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110315	hypertrophic cardiomyopathy 9 Aliases: CMH9 cardiomyopathy, familial hypertrophic, 9	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
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:14679	VACTERL association	DYNC2H1 FN1 PCSK5 QSOX1 SHH TBC1D32	221322 2335 5125 5768 6469 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	CC2D2A KIF14 RPGRIP1L TBC1D32 TMEM231 TMEM67 TXNDC15	221322 23322 57545 79583 79770 91147 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	AK9 CFAP43 CWH43	221264 80157 80217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:1579	respiratory system disease	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources

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