GlyCosmos Portal

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

Displaying entries **10951 - 10975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Edar	13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13250	diarrhea	Mme Slc26a3	13487 17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	Sucla2	20916	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081322	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Aliases: Autosomal recessive multiple pterygium syndrome	Myh3	17883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080931	primary localized cutaneous amyloidosis 2	Il31ra	218624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	Adamts13 Cd36 H2-Ab1 Proc Tfpi	12491 14961 19123 21788 279028	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	Igf1r Met Slc2a2	16001 17295 20526	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	Alg13	67574	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	Jph1	57339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	Tubb4a	22153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10247	pleurisy	Bdkrb1 Bdkrb2 Ccl11 Csf3 Elane Esr1 Icam1 Il15 Il17a Il1rn Pla2g6 Ptafr Ptgs2 Tnf	12061 12062 12985 13982 15894 16168 16171 16181 19204 19225 20292 21926 50701 53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	Slc6a17	229706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	Eef2	13629	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070316	Miura type epiphyseal chondrodysplasia Aliases: ECDM tall stature-scoliosis-macrodactyly of the great toes syndrome tall stature-scoliosis-macrodactyly of the halluces syndrome	Npr2	230103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	Ctsc	13032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	Slc5a7	63993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	Col4a3 Myh9	12828 17886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	Sptlc2	20773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8158	complement component 5 deficiency Aliases: C5 deficiency	Hc	15139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090052	dystonia 24	Ano3	228432	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:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features melancholia	Pclo	26875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	Cacna1s Cacng1 Ryr1 Ryr2	12292 12299 20190 20191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:962	neurofibroma	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources

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