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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 **7301 - 7325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	Stim1	20866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	Atp6v0a1	11975	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:811	lipodystrophy	Bscl2 Ccl2 Ebf1 Lmna Pparg	13591 14705 16905 19016 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	Apcdd1	494504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	Aqp4 Atp6v0e Pnpla6 Rpl26 Slc7a14	11829 11974 19941 241919 50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080526	bronchiectasis 1	Cftr Scnn1b	12638 20277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	Abcd3 Il2	16183 19299	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11252	microcytic anemia	Dnm1 Dnm2 Dnm3 Tmprss6	103967 13429 13430 71753	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050648	atelosteogenesis	Flnb Slc26a2	13521 286940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	Col4a3 Col4a4	12828 12829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	A2m Ace Adrb2 Cckbr Ccl2 Cd274 Elane Eno2 F2 H2-Ea H2-Eb1 Hspa1a Ifng Il10 Il19 Il1rn Mbl2 Mc2r Pdcd1 Proc Ptx3 Ren1 Sell Serpinc1 Serpinf1 Serping1 Sftpb Tbxa2r Tfpi Thpo Tnf Trem1	100504404 11421 11555 11905 12258 12426 13807 14061 14969 15978 16153 16181 17195 17200 18566 19123 19288 193740 19701 20296 20317 20343 20388 21390 21788 21832 21926 232345 329244 50701 58217 60533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	Adora2a Col2a1 Hgf Lama2 Loxl3 Lrp2 Lrpap1 Lum Mmp2 P4ha2 Slc39a5	11540 12824 14725 15234 16773 16950 16976 17022 17390 18452 72002	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	Atrx	22589	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	Sparc	20692	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	Drd2 F3 Fshr Kdr Serpinf1 Tfpi Vegfa	13489 14066 14309 16542 20317 21788 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10887	lepromatous leprosy Aliases: type L leprosy	C3 Cd163 Cfb H2-Aa Il27 Mbl2	12266 14960 14962 17195 246779 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070154	hereditary sensory neuropathy type 1F Aliases: HSN1F hereditary sensory neuropathy type IF	Atl3	109168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	Dkc1 Trp53	22059 245474	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	Gdf5 Ihh	14563 16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	Adamts2	216725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources

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