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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5826 - 5850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	Phkb	102093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4247	coronary restenosis	Myc Tnf Trp53	17869 21926 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	13478	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	Cpt1a Lep Ppara	12894 16846 19013	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	Akt1 Bad Chi3l1 Hs3st2 Idh2 Kat2a Lep Prkaa1 Slc3a2 Tnf Trp53 Tymp Ugt1a1	105787 11651 12015 12654 14534 16846 17254 195646 21926 22059 269951 394436 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	Hexb	15212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Eogt	101351	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	Myc Pcna	17869 18538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	Coq2 Ppargc1a	19017 71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	G6pd2 G6pdx	14380 14381	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	Ugt1a1	394436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Abo Gpi1 Hk1 Myc	14751 15275 17869 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	Trp53 Tymp	22059 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	Kcnq1	16535	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	Gapdh Gsk3b Tnf Trp53	14433 21926 22059 56637	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	Tlr2	24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	Adipoq Gclc Igf2 Myc Pgf Phkg2 Rbp4 Tlr4 Tnf	11450 14629 16002 17869 18654 19662 21898 21926 68961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	Nthl1	18207	Mus musculus (house mouse)	Alliance of Genome Resources

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