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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 **12226 - 12250** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	Cacng2	12300	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	Fgf23	170583	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	Fgf23	64654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	FGF23	8074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	Casr	24247	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	Casr	12374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	Casr	24247	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	Casr	12374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	Tnfrsf1a	21937	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	TNFRSF1A	7132	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	Tnfrsf1a	25625	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111198	autosomal dominant distal hereditary motor neuronopathy Aliases: autosomal dominant dHMN autosomal dominant distal hereditary motor neuropathy autosomal dominant distal spinal muscular atrophy	NARS1	4677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111215	autosomal dominant distal hereditary motor neuronopathy 8 Aliases: DHMN8 HMN8 autosomal dominant benign distal spinal muscular atrophy autosomal dominant congenital benign spinal muscular atrophy congenital benign spinal muscular atrophy with contractures congenital nonprogressive spinal muscular atrophy distal hereditary motor neuronopathy type 8 distal hereditary motor neuropathy type VIII	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	Slc5a7	85426	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	cho-1	178274	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	ChT	42245	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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