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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 **8776 - 8800** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3galnt2	291212	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2.L	431874	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3GALNT2	148789	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	TEAD1	7003	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	4534 55613 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	Mtmr1 Mtmr9	210376 53332	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	DNM1 DNM2 MTMR14	1759 1785 64419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	Dnm1 Dnm2 Dnm3 Mtmr14	103967 13429 13430 97287	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	Dnm1	140694	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	Speg	11790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	SPEG	10290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	BIN1	274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	Amph	60668	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	GFER	2671	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:0111214	autosomal recessive distal hereditary motor neuronopathy 5 Aliases: DSMA5 autosomal recessive distal spinal muscular atrophy type 5 distal spinal muscular atrophy type 5 young adult-onset dHMN young adult-onset distal hereditary motor neuropathy	DNAJB2	3300	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:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	Fbxo38	107035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	FBXO38	81545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	Hspb1	15507	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	Cryaa	12954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	Cryaa	24273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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