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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 **276 - 300** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050882	spinocerebellar ataxia type 5	SPTB SPTBN1 SPTBN2 SPTBN4	57731 6710 6711 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	TPI1	7167	Homo sapiens (human)	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	AGAP1 AGAP2 AGAP5 AGAP9 AUTS2 BRPF1 DOT1L DYRK1A EZH2 FRY FRYL KDM5B OPHN1 PDZD8 PRPF19 PSMC3 UNC79 ZMYND8	10129 10765 116986 116987 118987 1859 2146 23613 26053 27339 285527 4983 5702 57578 642517 729092 7862 84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050889	non-syndromic intellectual disability	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050890	synucleinopathy Aliases: Synucleinopathies alpha Synucleinopathies	DCTN1 KIF1B LRRK2	120892 1639 23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)	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 GPR161 IFNG KDM4C PDGFRA PTCH1 PTCH2 SMO TP53 TSC2	1499 23081 23432 324 3458 5156 5727 6608 675 7157 7249 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050904	salivary gland carcinoma	KDR PTGS1	3791 5742	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	ARPC1B ASXL1 BAP1 CD40 CDKN1B CREBBP CSF3R DDX42 EGR1 EZH2 FAS FASLG FCGR3A GATA2 GNB1 HFE IDH1 ITGB3 KDM1A MACROH2A1 MDM2 MEFV MYBL2 NPM1 NRAS PLCB1 PRPF8 SAMD9L SF3B1 SLC22A5 SRSF11 TERT TET2 TNF TP53 XRCC1 ZRSR2	10095 1027 10594 11325 1387 1441 171023 1958 2146 219285 2214 23028 23236 23451 2624 2782 3077 3417 355 356 3690 4193 4210 4605 4869 4893 54790 6584 7015 7124 7157 7515 8233 8314 9295 9555 958	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	CXCR4 HLA-DQA1	3117 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050912	colon adenoma	CHKA RAC1 RBP4 TET2	1119 54790 5879 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	FGFR3	2261	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	GRB7 NOD2	2886 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050933	ovarian serous carcinoma	MAP2K4 NCAM1 PTEN	4684 5728 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
DOID:0050939	uterine corpus endometrial carcinoma	SF3B1	23451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050941	spastic ataxia 2	KIF1C	10749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	ANKFY1 SACS	26278 51479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	SLC34A1 SLC34A3	142680 6569	Homo sapiens (human)	Alliance of Genome Resources

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