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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 **5001 - 5025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111310	familial febrile seizures 2 Aliases: FEB2 familial febrile convulsions 2	Hcn2	15166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts Aliases: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts	Aqp4 Gprc5b Hepacam	11829 64297 72927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	Fshr Nup107	103468 14309	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:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	Col1a1 Col1a2	12842 12843	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	Gp6	243816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081161	dilated cardiomyopathy 2E	Jph2	59091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112008	pituitary adenoma 5 Aliases: PITA5 pituitary adenoma 5, multiple types	Cdh23	22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	Skic3	218343	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050697	chorioamnionitis	Ager Fas Lta Mbl2 Mmp9 Tgfb1 Tnf Trem1	11596 14102 16992 17195 17395 21803 21926 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060817	syndromic X-linked intellectual disability 34 Aliases: MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type	Nono	53610	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	Bmp4 Mmp9 Timp1	12159 17395 21857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4797	SM-AHNMD Aliases: systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	Asxl1	228790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	Snrnp200	320632	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	Adamts15 Ecel1 Fbn2 Met Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	13599 140781 14119 17295 17879 17882 17883 17884 17888 235130 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	Plaur Spp1 Tfpi Trp53	18793 20750 21788 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	Ewsr1 Fus	14030 233908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	Ghsr	208188	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110313	hypertrophic cardiomyopathy 7 Aliases: CMH7 cardiomyopathy, familial hypertrophic 7	Tnni3	21954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	Sbf1	77980	Mus musculus (house mouse)	Alliance of Genome Resources

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