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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 **14701 - 14725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050610	oral cavity carcinoma in situ	NUF2	83540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112007	growth hormone secreting pituitary adenoma 2 Aliases: GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2	GPR101	83550	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	MFRP	83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	Abcb11	83569	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070232	benign recurrent intrahepatic cholestasis 2 Aliases: BRIC type 2 BRIC2	Abcb11	83569	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	Cdkn1b Ghsr	83571 84022	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	Cdkn1b	83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	Elovl4	83603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060670	cerebral cavernous malformation 2	CCM2	83605	Homo sapiens (human)	Alliance of Genome Resources
DOID:643	progressive multifocal leukoencephalopathy	Nefl	83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	Nefl	83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	Nefl	83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	Nefl	83613	Rattus norvegicus (Norway rat)	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	83615	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	Gabbr2	83633	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	Cd164	83689	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	Smarcd1	83797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	Trpv1	83810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2297	leptospirosis Aliases: Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice	Ache	83817	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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