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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 **11676 - 11700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	Cntn2	21367	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11165	common wart	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090134	complex cortical dysplasia with other brain malformations 3 Aliases: CDCBM3	Kif2a	16563	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:0070199	Miyoshi muscular dystrophy 1 Aliases: MMD1 Miyoshi myopathy 1	Dysf	26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	21898 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	Npc2	67963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	Tek Tg	21687 21819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	Mosmo Uqcrc2	233812 67003	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10762	portal hypertension	Angpt2 Avp Avpr1a Bdkrb2 Ccl2 Dbh Ednra Ednrb F5 Fgfr2 Hsp90aa1 Mtor Ngfr Nos3 Nr1d1 Pik3r1 Ptgs2 Ren1 Serpinf1 Th Tmem67 Tnf Vegfa	11601 11998 12062 13166 13617 13618 14067 14183 15519 18053 18127 18708 19225 19701 20296 20317 217166 21823 21926 22339 329795 54140 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	Trpm4	68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	55981	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	Bche Gc Grn H2-Ab1 H2-Eb1 Igfbp3 Il4ra Mmp9 Shh	12038 14473 14824 14961 14969 16009 16190 17395 20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	Apob Calr Ccr5 Cyp1a1 Egf Lrp1b Rbp4	12317 12774 13076 13645 19662 238055 94217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110440	dilated cardiomyopathy 1J Aliases: CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy	Eya4	14051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080802	autosomal recessive craniometaphyseal dysplasia	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	117592	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	Idua	15932	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080445	developmental and epileptic encephalopathy 13 Aliases: DEE13 early infantile epileptic encephalopathy 13	Scn8a	20273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	Spred1	114715	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	Hgf Icam1 Il13 Mmp1a Tgfb1	15234 15894 16163 21803 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources

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