GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5601 - 5625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	Gpr143	18241	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	Akap12 Cbl Cdc5l Cxcr4 Ddr1 Efemp2 Egr1 Ezh2 Il3 Lzic Msh6 Ptprb Serpinf1 Trp53	12305 12402 12767 13653 14056 16187 17688 19263 20317 22059 58859 69151 71702 83397	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081363	distal myopathy with rimmed vacuoles	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080504	Parkinson's disease 22 Aliases: autosomal dominant Parkinson's disease 22	Chchd2	14004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8456	choline deficiency disease Aliases: choline deficiency	Dnmt1	13433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	Cyp1a1	13076	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050820	atrioventricular block Aliases: AV block	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	Mfrp	259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	Krt2	16681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	Nfu1	56748	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	Fbxo38	107035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Abcb1a Abcb1b Abcc2 Abcg2 Abo Bax Bcr Cast Cd46 Cd79b Cd86 Cfb Csf3 Cspg4 Cyp1a1 Eng Ephx1 Ezh2 F3 Fas Fga Flt3 Gnb1 Gpi1 Gpx1 Gsr H2-Aa H2-Ab1 Hdac1 Hdac4 Hfe Hk1 Ifng Il10 Kdm3b Kdm6a Kras Myc Nos3 Notch3 Nup214 Pon1	110279 12028 121021 12380 12524 12780 12985 13076 13805 13849 14056 14066 14102 14161 14255 14688 14751 14775 14782 14960 14961 14962 15216 15275 15978 15985 16153 16653 17221 17869 18127 18131 18669 18671 18979 208727 22289 227720 26357 277250 433759 80908	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:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	Dcn	13179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	Bmp4 Creld1 Dnah11 Gata4 Glyr1	12159 13411 14463 171508 74022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	Spta1	20739	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110009	achromatopsia 7 Aliases: ACHM7	Atf6	226641	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:543	dystonia Aliases: dystonic disease	Atp2b4 Bche Gnal Penk Tor1a Tor1b Tor2a Tor3a	12038 14680 18619 30931 30933 30934 30935 381290	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	Mme	17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	Aldh5a1	214579	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	Ptpa	110854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	Dkc1 Trp53	22059 245474	Mus musculus (house mouse)	Alliance of Genome Resources

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