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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 **10901 - 10925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	Acvr1 Col4a2 Erap1 Lnpep Rbp4	11477 12827 19662 240028 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	Agxt2 Bad Bax Sirt2	12015 12028 268782 64383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	Phc1	13619	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	Fcgr2b Fcgr3	14130 14131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081214	autosomal recessive intellectual developmental disorder 51	Hnmt	140483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050853	chronic venous insufficiency	Pecam1	18613	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	Gk2 Gk	14626 14933	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080764	hereditary diffuse gastric cancer	Cdh1	12550	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	Nog	18121	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	Piga	18700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	Hsd11b1	15483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	Abca1 Hmgcs2 Nfe2l2 Oprm1 Pdgfrb Slc22a1 Slc22a2	11303 15360 18024 18390 18596 20517 20518	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies Aliases: NEDSID	Setd1a Setd1b	208043 233904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	14425 16591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8622	measles Aliases: morbilli	Muc1	17829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9409	diabetes insipidus	Aqp2 Avp Has2	11827 11998 15117	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	Acvr2a Acvr2b Bmp2 Bmp4 Bmpr1a Hivep2 Hivep3 Smad4	11480 11481 12156 12159 12166 15273 16656 17128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070385	developmental and epileptic encephalopathy 99 Aliases: DEE99 early infantile epileptic encephalopathy 99	Atp1a3	232975	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	Ndufb8	67264	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	Mogs	57377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	Cftr	12638	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110360	retinitis pigmentosa 39 Aliases: RP39	Ush2a	22283	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	Gad1	14415	Mus musculus (house mouse)	Alliance of Genome Resources

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