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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 **1751 - 1775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
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:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	72727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8158	complement component 5 deficiency Aliases: C5 deficiency	C5	727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	Cul4b	72584	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081102	familial gestational hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081101	nonautoimmune hyperthyroidism Aliases: Congenital nonautoimmune hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	TSHB	7252	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070182	spermatogenic failure 13 Aliases: SPGF13	Taf4b	72504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3317	hepatic angiomyolipoma	TSC2	7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080324	tuberous sclerosis 1	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	Lrpprc	72416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14743	trichorhinophalangeal syndrome type I Aliases: trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080376	trichorhinophalangeal syndrome type III Aliases: trichorhinophalangeal syndrome type 3	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	TRPC6	7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111744	cerebellar ataxia type 41 Aliases: SCA41	TRPC3	7222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	Mfsd8	72175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	Wdfy3	72145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	Wdfy3	72145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	Chst14	72136	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	C4B	721	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081147	common variable immunodeficiency 4	Tnfrsf13c	72049	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070074	autosomal dominant intellectual developmental disorder 44 Aliases: MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44	TRIO	7204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080579	3-Methylcrotonyl-CoA carboxylase 1 deficiency	Mccc1	72039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	Cnpy3	72029	Mus musculus (house mouse)	Alliance of Genome Resources

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