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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 **11651 - 11675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0090120	hereditary neutrophilia	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12556	acute kidney tubular necrosis Aliases: ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis	Bmp7 Gsr Havcr1 Nog Tek Timd2	12162 14782 171283 171284 18121 21687	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Atp13a2 Atp13a3 Atp13a5 Cln3 Ctsd Ppt1 Ppt2 Sod2	12752 13033 19063 20656 224088 268878 54397 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	Bax	12028	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	Apoc3 Cd163 H2-Eb1 Ifng Il1rl1 Il2ra Itgb3	11814 14969 15978 16184 16416 17082 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:401	multidrug-resistant tuberculosis	Foxp3 H2-Ab1 H2-Eb1	14961 14969 20371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	Fgfr1	14182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	Wnt5a	22418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3756	protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	Atp7a Cox6b1 Tymp Vars1	110323 11977 22321 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060364	Galloway-Mowat syndrome 1 Aliases: Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome	Nup133	234865	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	Abcc9	20928	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	Adgrg2	237175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	Cep290 Tmem67	216274 329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070388	developmental and epileptic encephalopathy 102 Aliases: DEE102 early infantile epileptic encephalopathy 102	Slc38a3	76257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	Jam2 Myorg Pdgfb Pdgfrb Slc20a2	18591 18596 20516 329828 67374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	Tfrc	22042	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111744	cerebellar ataxia type 41 Aliases: SCA41	Trpc3	22065	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	Atp6ap1	54411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111406	Fraser syndrome 3 Aliases: FRASRS3	Grip1	74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	Acvrl1 Eng Flt1 Kdr Kras Lemd3 Notch4 Sars1 Vegfa	11482 13805 14254 16542 16653 18132 20226 22339 380664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	Eps8	13860	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	Chrnb2	11444	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	Ccbe1 Fat4	320924 329628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	Dnmt1	13433	Mus musculus (house mouse)	Alliance of Genome Resources

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