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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 **4026 - 4050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110315	hypertrophic cardiomyopathy 9 Aliases: CMH9 cardiomyopathy, familial hypertrophic, 9	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: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: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	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111025	cone-rod dystrophy 19 Aliases: CORD19	TTLL5	23093	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110398	retinitis pigmentosa 51 Aliases: RP51	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:14671	multiple intestinal atresia Aliases: GIDID Multiple gastrointestinal atresias familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome	TTC7A	57217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111923	spermatogenic failure 42 Aliases: SPGF42	TTC29	83894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111927	spermatogenic failure 37 Aliases: SPGF37	TTC21A	199223	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050961	spinocerebellar ataxia type 11	TTBK2	146057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111662	ectodermal dysplasia 14 Aliases: ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	TSPAN7	7102	Homo sapiens (human)	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:0112329	pontocerebellar hypoplasia type 2F Aliases: PCH2F	TSEN15	116461	Homo sapiens (human)	Alliance of Genome Resources
DOID:3317	hepatic angiomyolipoma	TSC2	7249	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:0080324	tuberous sclerosis 1	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081098	autosomal recessive intellectual developmental disorder 13	TRS120	852016	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112166	autosomal dominant nonsyndromic deafness 75 Aliases: DFNA75	TRRAP	8295	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:14743	trichorhinophalangeal syndrome type I Aliases: trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources

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