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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 **7226 - 7250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	Dnm1	13429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	74653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	Atp13a2	74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	Yars1	107271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	72727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	Abcg2 Btk Cd40 Ezh2 Il21r	12229 14056 21939 26357 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111302	generalized epilepsy with febrile seizures plus 1 Aliases: GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1	Scn1b	20266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2277	gonadal disease	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060301	type I complement component 8 deficiency	C8a	230558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	Aldoc Atf4 Atf6 Bdnf Cd44 Eif2a Gja1 Gjb6 Il16 Ngf Ntf3 Ntrk2 Ntrk3 Slc6a4	11676 11911 12064 12505 14609 14623 15567 16170 18049 18205 18212 18213 226641 229317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	Itgb2 Itgb2l	16414 16415	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	Acvr2a Car12 Car9 Kras Mlh1 Msh6 Rnaset2a Rnaset2b Slc22a19 Slc22a26 Slc22a27 Slc22a28 Slc22a29 Slc22a30 Smad2 Smad4 Tcf4 Tgfbr1 Tgfbr2	100037283 11480 16653 17126 17128 171405 17350 17688 207151 21413 21812 21813 230099 236149 236293 319800 434674 68195 76459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	Slc19a2 Slc19a3	116914 80721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	Gabra1	14394	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	Clcnka Clcnkb Slc12a3 Wnk4	12733 20497 56365 69847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	Abcb1a Abcb1b Abcg2 Drd2 Epha4 Ephx1 Igf1r Il10 Slc18a2	13489 13838 13849 16001 16153 18669 18671 214084 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Acvr2b Cc2d1a Cep290 Cfc1 Cox5a Dnah11 Dnah5 Dnai1 Drc1 Gdf1 Megf8 Mmp21 Nodal Pcsk5 Phka2 Slit2 Tmem67 Zic3	110082 110094 11481 12627 12858 13411 14559 18119 18552 20563 212139 214766 216274 22773 269878 329795 381738 68922	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	Gns	75612	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	Atp5f1a Avp Bdnf Epo Fgfr1 Flt1 Gclm Gpx1 Grin1 Grin2a Grin2b Gsk3b Hspa1a Igf1r Mapt Mmp2 Mtor Nefl Nox1 Pon2 Rps6 Snca Sncg Srebf2 Tnf Trp53	11946 11998 12064 13856 14182 14254 14630 14775 14810 14811 14812 16001 17390 17762 18039 193740 20104 20617 20618 20788 21926 22059 237038 330260 56637 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2914	immune system disease	Pou2f1	18986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	Bmp4 Eif4ebp1 Mmp9 Tsc1	12159 13685 17395 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	Syt1 Syt2	20979 20980	Mus musculus (house mouse)	Alliance of Genome Resources

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