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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 **6376 - 6400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0081344	congenital myopathy 9B	Fxr1	14359	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080130	mitochondrial DNA depletion syndrome 12a	Slc25a4	11739	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	Aldh18a1 Asl Bcat2 Cth Glul Gpt Hibadh Hmgcl Pccb Shmt1 Shmt2 Tars1	107869 108037 109900 110960 12036 14645 15356 20425 56454 58875 66904 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5138	leiomyomatosis	Cd44 Fh1	12505 14194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	Dph2	67728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111968	immunodeficiency 41 Aliases: CD25 deficiency IL2RA deficiency IMD41 immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency due to CD25 deficiency interleukin-2 receptor alpha chain deficiency	Il2ra	16184	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	Atrx Ccl2 Fus Hspb1 Kdr Met Pdhx Ptprb Srebf2 Trp53	15507 16542 17295 19263 20296 20788 22059 22589 233908 27402	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080393	nephrotic syndrome type 18	Nup133	234865	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Ace Gla Il1a Naga	11421 11605 16175 17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	Ace Agtr2 Anxa5 Axl Bdkrb1 C1qa C3 Ccl1 Ccl7 Cd163 Cd59a Cd59b Cfi Col4a3 Csf1 Ep300 F2 Fbn1 Fcgr2b Fcgr4 Fn1 Fos Gas6 Gdnf Ifng Il1rn Itga3 Itgb1 Itgb3 Klkb1 Ltbp1 Mpo Ngf Pdgfb Pdgfd Pla2g7 Prf1 Ptafr Spp1 Tnfrsf1a Tnfrsf1b Tpo Trf Vcam1 Vegfa	11421 11609 11747 12061 12259 12266 12509 12630 12828 12977 14061 14118 14130 14268 14281 14456 14573 15978 16181 16400 16412 16416 16621 17523 18049 18591 18646 19204 20290 20306 20750 21937 21938 22018 22041 22329 22339 246256 26362 268977 27226 328572 333883 71785 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	Acvrl1 Adamts1 Adamts4 Ager Aifm1 Ank2 Aqp4 Atf2 Atp5f1b Bace1 Bax Bnip3 C3 Camk2a Casp9 Cbl Ccl2 Ccr6 Csf3 Dbn1 Dll4 Eif2s1 Elane Elk1 Entpd1 Ep300 Epo Esr1 Esr2 F11r F12 Fas Fgfr1 Fgfr2 Fto G6pd2 G6pdx Gad1 Ghsr Gja1 Gjb6 Glul Got1 Grin2a Grin2b Gsr Havcr2 Hrh2 Hsf1 Hspa5 Hspa8 Hspb1 Icam1 Ifnb1 Ikbkb Il10 Il1rn Itgb3 Itpr1 Kcnk2 Klf5 Lcn2 Lmna Lpar1 Ltbp1 Madd Map2k4 Mbp Mecp2 Mff Mmp2 Mmp9 Mtor Myb Nampt Nefh Nefl Nefm Nf1 Nfkb1 Ngfr Nos3 Notch1 Nox1 Nrp1 Nrxn1 Ogg1 Pcna Plat Plxnd1 Pparg Ptafr Ptger4 Ptpn13 Ptpn5 Rack1 Robo1 Robo2 Rps6 Sema3e Serpinf1 Sin3a Sirt6 Slc12a2 Slc17a6 Slc17a7 Slc17a8 Slit2 Sod1 Sod2 Stat3 Tfpi Tnf Tnfrsf1a Trpc6 Ucp2 Vwf Wnk1 Wnk2 Wnk4	109676 11482 11504 11596 11829 11909 11947 12028 12176 12224 12266 12322 12371 12402 12458 12495 12985 13665 13712 13856 13982 13983 140919 14102 14182 14183 14380 14381 14415 14609 14623 14645 14694 14718 14745 14782 14811 14812 14828 15466 15481 15499 15507 15894 15977 16150 16153 16181 16416 16438 16456 16526 16819 16905 171285 17196 17257 17390 17395 17863 18015 18033 18039 18040 18053 18127 18128 18186 18189 18294 18538 18791 19016 19204 19219 19249 19259 19876 20104 20296 20317 20349 20466 20496 20563 20655 20656 208188 20848 216227 21788 21926 21937 22068 22228 22371 228355 232341 237038 23821 240913 26383 26398 268902 268977 26926 328572 380684 50701 50721 54485 56320 56717 58992 59027 67784 69847 72961 75607 75734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	Scn10a	20264	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	Kcnk9	223604	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	Ptpn11 Ptpn6	15170 19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1210	optic neuritis	Aqp4 Ccr5 H2-Ab1 H2-Eb1 Mog Nefh Sod2	11829 12774 14961 14969 17441 20656 380684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	Oxr1	170719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	Grhl2	252973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	Chd4 Slc39a8 Ywhae	107932 22627 67547	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	Actn2	11472	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8432	polycythemia Aliases: Erythrocythemia	Ace Egln1 Epor	112405 11421 13857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050669	spastic cerebral palsy	Gad1	14415	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

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