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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 **8151 - 8175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4751	striatonigral degeneration	Nup62 Vac14	18226 234729	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	Scn4a	110880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	Slc12a6	107723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	Cd3d	12500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	Tnfrsf1a Tnfrsf1b	21937 21938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110838	Usher syndrome type 2A Aliases: USH2A Usher syndrome type IIA	Ush2a	22283	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	Slc52a2	52710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	Wdr4	57773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111286	psoriasis 1 Aliases: PSORS1	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	Add1 Alpl Apob Apoc3 Lipc Lpl Thbd Tnfrsf1b Vwf	11518 11647 11814 15450 16956 21824 21938 22371 238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110899	inflammatory bowel disease 28 Aliases: IBD28 early onset autosomal recessive inflammatory bowel disease 28	Il10ra	16154	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	Cryaa	12954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081321	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Aliases: Autosomal dominant multiple pterygium syndrome	Myh3	17883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	Met Prcc	17295 94315	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12466	secondary hyperparathyroidism	Abcg2 Casr Eng Kl Ptgs2 Tnfrsf11b	12374 13805 16591 18383 19225 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	Arhgef2	16800	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	Tmprss15	19146	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	Abcc8 Ep300 Itpr1 Tnf Trpm4	16438 20927 21926 328572 68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080254	orofaciodigital syndrome XVI	Tmem107	66910	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	Folr1	14275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	Bdnf Cnga3 Tyr	12064 12790 22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	Ednra	13617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111189	distal myopathy 3 Aliases: MPD3 distal muscular dystrophy 3 distal myopathy type 3	Hnrnpa1	15382	Mus musculus (house mouse)	Alliance of Genome Resources

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