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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 **9326 - 9350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	Man2b1	17159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	Epx H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 13861 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	Il17a Il4ra Tlr2 Tnf Tnfrsf1a Tnfrsf1b	16171 16190 21926 21937 21938 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12143	neurogenic bladder Aliases: Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder	Ngf	18049	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	Bnip1 Ctss Dbn1 Dop1b Dscam Dscaml1 Dyrk1b Dyrk3 Hnmt Hspd1 Igfbp3 Mmp9 Mthfd1 Napb Pofut2 Reln Snap25 Sod1 Synj2 Timp1 Tuba1a	108156 114873 13040 13508 13549 140483 15510 16009 17395 17957 19699 20614 20655 20975 21857 22142 224630 226419 56320 70028 80294	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060848	developmental and epileptic encephalopathy 9 Aliases: DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation	Pcdh19	279653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11204	allergic conjunctivitis	Ccl11 Ccl7 Icam1 Ifng Il10 Il13 Il1rn Il4ra Muc1 Muc4 Tlr4 Tlr9 Tnc	140474 15894 15978 16153 16163 16181 16190 17829 20292 20306 21898 21923 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	Dnm1 Dnm2 Dnm3	103967 13429 13430	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	Casz1 Kcnab2	16498 69743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	Prom1	19126	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	Ddb1	13194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	Bcat2 Dld	12036 13382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050562	West syndrome	Cfl1 Mc2r Stxbp1	12631 17200 20910	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070476	diphthamide deficiency syndrome Aliases: DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair	Dph2	67728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	Dpysl5 Vps35l	65254 71517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	4933427D14Rik Arl3	56350 74477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	Chi3l1 Col2a1 Ext1 Mtor	12654 12824 14042 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Fcgr4	246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	Wnt7b	22422	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081320	multiple synostoses syndrome 4	Gdf6	242316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060859	salmonellosis Aliases: Salmonella infection	Il12b	16160	Mus musculus (house mouse)	Alliance of Genome Resources

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