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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **351 - 375** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	FMR1	2332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050880	Koolen de Vries syndrome Aliases: 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome	KANSL1	284058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050880	Koolen de Vries syndrome Aliases: 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome	Kansl1	76719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	HNRNPA2B1	3181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	SPTBN2	6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi	43582	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi1	21991	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	851620	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	Spart	229285	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	SPART	23111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050887	Townes-Brocks syndrome	DACT1 SALL1	51339 6299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	mnb	32771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	Anapc7	56317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	Ifng Ptch1 Smo	15978 19206 319757	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	APC BRCA2 CTNNB1 ELP1 GPR161 PTCH2 TSC2	1499 23432 324 675 7249 8518 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050905	inflammatory myofibroblastic tumor	RANBP2	5903	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	Asxl1 Atg7 Bap1 Egr1 Npm1	104416 13653 18148 228790 74244	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 CDKN1B CSF3R EZH2 FCGR3A GATA2 GNB1 HFE IDH1 MEFV NRAS PLCB1 SF3B1 SRSF2 TET2 TP53 XRCC1 ZRSR2	10095 1027 1441 171023 2146 2214 23236 23451 2624 2782 3077 3417 4210 4893 54790 6427 7157 7515 8233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	HLA-DQA1	3117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	CLPTM1L	81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050933	ovarian serous carcinoma	MAP2K4	6416	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050934	ovarian clear cell carcinoma Aliases: clear-cell ovarian carcinoma	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources

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