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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 **10601 - 10625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070299	multiple epiphyseal dysplasia 5 Aliases: BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related	Matn3	17182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8893	psoriasis	Adrb2 Ager C2 Cadm2 Cast Ccr5 Ccr6 Cd40 Cfb Cfh Cfhr4 Cfi Clu Comt Ctla4 Cyp1a1 Fabp5 Fcgr2b Fcgr3 Flt1 Gba1 H2-Aa H2-Ab1 Icam1 Il10 Il13 Il13ra1 Il17a Il23r Il25 Il2 Il3 Il4 Itgb2 Kdr Lta Mbl2 Mki67 Nampt Rbp4 Sod2 Spint1 Sptlc2 Stat3 Tgfb1 Tlr2 Tlr4 Tnf Tnfrsf1a Tnfrsf1b Vegfa	11555 11596 12263 12380 12458 12477 12628 12630 12759 12774 12846 13076 140806 14130 14131 14254 14466 14960 14961 14962 15894 16153 16163 16164 16171 16183 16187 16189 16414 16542 16592 16992 17195 17345 19662 20656 20732 20773 20848 209590 214403 21803 21898 21926 21937 21938 21939 22339 239857 24088 59027	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050073	invasive aspergillosis	Cxcr3 Cyp2c29 Mbl2 Ptx3 Tlr4	12766 13095 17195 19288 21898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	Sumf1	58911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111003	Joubert syndrome 8 Aliases: JBTS8	Arl13b	68146	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	Kif21a Tubb3	16564 22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	Nup107	103468	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	Cd163 Lcn2 Ncstn Tnf	16819 21926 59287 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4031	eosinophilic gastroenteritis	Il5	16191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050012	chikungunya Aliases: Chikungunya fever	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10126	keratoconus Aliases: conical cornea	Bdnf Bmp4 Fga Hgf Il1a Il1rn Kera Mmp2 Pon1 Tuba3a Tuba3b	12064 12159 14161 15234 16175 16181 16545 17390 18979 22144 22147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	Abcb1b Actb Add1 Aqp4 Avp Azgp1 Cacna1a Crhbp Cxcr4 Dbn1 Dlg4 Fos Gdnf Glud1 Glul Grik5 Grin2b Grm1 Hcn1 Kcna1 Map2 Mapt Mbp Mmp9 Mtor Npy1r Npy2r Nsf Ntrk2 Pgf Ptprz1 Rasgrf1 Reln Rgma Shh Slc32a1 Slc6a1 Vdac2	11461 11518 11829 11998 12007 12286 12767 12919 13385 14281 14573 14645 14661 14809 14812 14816 15165 16485 17196 17395 17756 17762 18166 18167 18195 18212 18654 18669 19283 19417 19699 20423 22334 22348 232333 244058 56320 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050632	oculocutaneous albinism	Dct Nsf Oca2 Slc45a2 Tyr Tyrp1	13190 18195 18431 22173 22178 22293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	Htr2c	15560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	Nup188	227699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	Foxp3 Washc4	20371 319277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Ctns Lrp2 Slc34a1	14725 20505 83429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	Bpgm	12183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Add1 Aqp1 Aqp4 Celsr2 Hmgb1 Hspd1 Itgb1 L1cam Mboat7 Ntf3 Pomk Ppara Smarcc1 Tmem67 Trim71	11518 11826 11829 15289 15510 16412 16728 18205 19013 20588 329795 53883 636931 74653 77582	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	Ryr2	20191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	Chrnb1	11443	Mus musculus (house mouse)	Alliance of Genome Resources

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