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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 **10151 - 10175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	Ltbp2	16997	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060891	Parkinson's disease 19A Aliases: juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A	Dnajc6 Gak	231580 72685	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	Ano6	105722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5614	eye disease	Col2a1 Eya4 F2 Myrf Tlr2 Tlr3 Tlr4 Tnf	12824 14051 14061 142980 21898 21926 225908 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	Ctsd	13033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	Bag3	29810	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:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	Gnptg	214505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Avp Cbl Ccl11 Cyp2c29 Drd1 F2 F7 Gck Gipr Glp1r Gpx1 Hcrtr2 Hp Hrh3 Hspd1 Hspg2 Htr2a Icam1 Il1a Il1rn Itgam Itgav Ldha Lepr Mmp9 Pcsk1 Pdx1 Pla2g4a Pon1 Ppargc1a Prkcb Prkcz Prnp Ptch1 Sdc1 Sod1 Trf	103988 11554 11677 11998 12402 13095 13488 14061 14068 14652 14775 15439 15510 15530 15558 15894 16175 16181 16409 16410 16828 16847 17395 18548 18609 18751 18762 18783 18979 19017 19122 19206 20292 20655 20969 22041 381853 387285 99296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	Mlh1 Msh6 Rnaset2a Rnaset2b Slc22a19 Slc22a26 Slc22a27 Slc22a28 Slc22a29 Slc22a30 Tgfbr2 Trp53	100037283 171405 17350 17688 207151 21813 22059 236149 236293 319800 434674 68195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	Gria3	53623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0040094	autoimmune glomerulonephritis	Fgl2	14190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	Chrna4	11438	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	Eef2 Kdm6a Slc7a5 Stat3 Stat6	13629 20539 20848 20852 22289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8689	anorexia nervosa	Htr4 Igfals Nr3c1	14815 15562 16005	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111076	progressive familial heart block type IB Aliases: PFHB1B	Trpm4	68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9470	bacterial meningitis	Ache Bche Bdnf Cd46 Chi3l1 Mmp9 Ngf Trem1	11423 12038 12064 12654 17221 17395 18049 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112276	neurodevelopmental disorder with involuntary movements Aliases: NEDIM	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	13478	Mus musculus (house mouse)	Alliance of Genome Resources

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