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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 **6626 - 6650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4769	pleuropulmonary blastoma	Fgf9	14180	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	Acan Npr2	11595 230103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	Chd6 Chd8 Chd9 Sema3e Trp53	109151 20349 22059 67772 71389	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	Dnmt1 Dst Ntrk1 Scn11a Wnk1	13433 13518 18211 232341 24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	Tubb4a	22153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	Lta Tnf Vegfa	16992 21926 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	Ccr5 H2-Aa H2-Ab1 H2-Eb1 Hfe Hspd1 Il1a Il2 Lacc1 Mbl2 Selp Slc11a1 Slc26a2 Thbd	12774 13521 14960 14961 14969 15216 15510 16175 16183 17195 18173 20344 210808 21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	Myoc	17926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	Fasl Hgf Il4 Mtap Muc1 Muc4 Muc5ac	140474 14103 15234 16189 17829 17833 66902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	Deaf1	54006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	Adamts13 Elane F13a1 F2 F3 Fga Gp6 Il10 Plat Proc Serpinc1 Tfpi Thbd Tnf	11905 14061 14066 14161 16153 18791 19123 21788 21824 21926 243816 279028 50701 74145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	Abcc8 Agtr2 Akt2 Cyp2c29 Epo Gck Glud1 Grin2b Ppp1r3a Th	103988 11609 11652 13095 13856 140491 14661 14812 20927 21823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110480	autosomal recessive nonsyndromic deafness 22 Aliases: DFNB22 autosomal recessive deafness 22	Otoa	246190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency Aliases: BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Bckdk	12041	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:0060019	coronin-1A deficiency	Coro1a	12721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	Hcn1	15165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	Nt5e Tnfrsf11b	18383 23959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	Ace Adrb1 Agtr1a Agtr1b Agtr2 Avpr1a Camk2d Cma1 Cxcr3 Eif4g2 Fn1 G6pd2 G6pdx Gja1 Havcr1 Lama2 Lcn2 Mpo Pdgfa Ptgs1 Rela Ren1 Slc9a1 Spp1 Timd2	108058 11421 11554 11607 11608 11609 12766 13690 14268 14380 14381 14609 16773 16819 171283 171284 17228 17523 18590 19224 19697 19701 20544 20750 54140	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:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	Cd163 Il3	16187 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	Cyp1a1 Flnb Fras1 Gli3 Grip1 Ret	13076 14634 19713 231470 286940 74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	Avpr2	12000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	Mfsd8	72175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	66789	Mus musculus (house mouse)	Alliance of Genome Resources

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