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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 **11376 - 11400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	Cep290 Crb1 Crb2 Pals1 Prph2	170788 19133 216274 241324 56217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	Tlr7	170743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	Rtn4ip1	170728	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:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2 TNF	170691 2200 4053 7124 81794	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ADAMTS15 ECEL1 FBN2 MET MYBPC1 MYH15 MYH1 MYH7	170689 2201 22989 4233 4604 4619 4625 9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111021	cone-rod dystrophy 15 Aliases: CORD15	Cdhr1	170677	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	Hadha Hadhb	170670 171155	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	Cpt1a Cpt2 Hadha Hadhb Lep Npy5r Ppara	170670 171155 25340 25413 25608 25747 25757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	Kirrel1	170643	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050852	limb ischemia	Cs Dll4 Epo Fgfr1 Hgf Nos3 Vegfa	170587 24335 24446 24600 311332 79114 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	Ace2 Actb Adgrl4 Agt Cma1 Cs Cyp1a1 Htr2b Icam1 Igf1r Lamp2 Map3k7 Mmp2 Mmp9 Mybpc3 Ndufa7 Ndufs2 Orai1 Slc25a4 Stim1 Tnni3 Tnnt2	170587 24179 24296 24837 24944 25464 25627 25718 289218 29248 29581 295929 299643 302668 304496 313121 361618 64124 81686 81687 81822 85333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	Aqp3 Atp5po Bad Bdnf Col1a2 Col2a1 Cs Dpysl2 Duox1 Duox2 F7 Ifng Il10 Il4 L1cam Map1a Mstn Ncam1 Nefl Nefm Ngf Nos3 Nr1d1 Pam Pcna Pcsk1 Plod3 Reln Shh Slc26a5 Slc2a1 Slc34a1 Sod2 Tshb Ucp2	170587 192241 24225 24586 24588 24600 24718 24778 24787 25152 25204 252917 25325 25412 25416 25508 25548 25653 25712 25737 260320 266807 287287 288583 29152 29499 310738 50687 54315 64639 65133 79107 83613 83819 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	Akt1 Ank3 Atp1a3 Camk2a Ccl2 Chrm2 Chrnb3 Comt Cs Erbb4 Gabra3 Gabra5 Grin2a Grin2b Grn Gsk3b Htr2c L1cam Ncam1 Ngf Ntrk2 Ptgs2 Reln Slc18a1 Slc6a4 Snca Tnfrsf11b	170587 171131 24185 24213 24267 24409 24410 24586 24718 24770 24947 25054 25187 25341 25400 25553 25693 29143 29219 29527 29707 310738 361833 50687 59323 81645 84027	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	Fgf23	170583	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	Alpl Angpt2 Comt Fgf23 Mstn Th	170583 24267 25085 25586 29152 89805	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	cacna1c	170581	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	cacna1c	170581	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	cacna1c	170581	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	cacna1c comta comtb ngfb	170581 561372 565370 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	cacna1c cacna1da cacna1fb cacna1sa cacna1sb	170581 403310 405791 559964 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	cacna1c cacna1da cacna1fb cacna1sa cacna1sb	170581 403310 405791 559964 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	Sp7	170574	Mus musculus (house mouse)	Alliance of Genome Resources

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