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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 **5951 - 5975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050598	extrapulmonary tuberculosis	Cd209a Cd209b Cd209c Cd209d Ereg	13874 170776 170779 170786 69165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	Serpinh1	12406	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	Ddb1	13194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	Lbr	98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	20454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	Krt2	16681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3429	inclusion body myositis	Cd36 Clu Dag1 Fas Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Sod2	12491 12759 13138 140781 14102 17879 17882 17883 17884 17888 20656 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5 Aliases: GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with mental retardation syndrome 5	Pigw	70325	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110263	cataract 19 multiple types Aliases: CTRCT19	Lim2	233187	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	Piezo2	667742	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	Dync1h1	13424	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111553	spondyloepiphyseal dysplasia Maroteaux type Aliases: Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 SED, Maroteaux type spondyloepiphyseal dysplasia of Maroteaux	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110475	autosomal recessive nonsyndromic deafness 1A Aliases: DFNB1A autosomal recessive deafness 1A	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	Runx2	12393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	Ap2m1 Atp2b1 Camk2g Dlg4 Gria1 Hnrnpc Kmt2b Lman2l Setd2 Srrm2 Taf4 Trio Zfp292	11773 12325 13385 14799 15381 214895 223435 228980 235626 30046 67972 75410 75956	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	Mllt10	17354	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3877	functional colonic disease	Crhr1 Crhr2	12921 12922	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090120	hereditary neutrophilia	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110320	hypertrophic cardiomyopathy 14 Aliases: CMH14 cardiomyopathy familial hypertrophic 14	Myh6	17888	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	Dkk1 Gli3 Mmp13 Mmp9	13380 14634 17386 17395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	Evc Gata4 Igf2 Mmp9 Sall4 Tbx20	14463 16002 17395 57246 59056 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	Slc39a8	67547	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)	Alliance of Genome Resources

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