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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 **3476 - 3500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	366061 83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	Aqp4 C3 C5ar1 Dctn1 Dpp6 Epo Gdnf Got1 Grn Gsk3a Gsk3b Hmgb1 Igf1r Kdr Lcn2 Map4 Mmp2 Mmp9 Mstn Nefl Nefm Nfe2l2 Pgf Pon2 Pon3 Ppargc1a Ptgs2 Ptprz1 Sarm1 Slc11a2 Slc1a2 Sod3 Ubqln2 Vegfa	113959 170496 24232 24335 24401 24588 25293 25352 25453 25459 25589 25613 25715 25718 287545 29143 29152 29167 29272 29482 29527 296851 312086 317396 367171 50686 81686 81687 83516 83613 83619 83785 84027 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	cht-1 srp-3 ver-1 ver-3 ver-4	175182 178672 180628 181289 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	Pld3	18807	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110371	retinitis pigmentosa 56 Aliases: RP56	IMPG2	50939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080622	peroxisome biogenesis disorder 2B	Pex5	19305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	Sod2	24787	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	dhtkd1	494076	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111998	immunodeficiency 66 Aliases: IMD66	MRTFA	57591	Homo sapiens (human)	Alliance of Genome Resources
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	SERPINC1	462	Homo sapiens (human)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	rho	100037900	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	edem3.L galnt2.L galnt2.S	101027298 108716128 443907	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	Sema2a Sema2b	246538 36846	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070405	hypomyelinating leukodystrophy 16 Aliases: HLD16	Tmem106b	71900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050850	diabetic encephalopathy	AGER APP GSK3B NGFR PPARG	177 2932 351 4804 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:10230	aortic atherosclerosis Aliases: Atherosclerosis of aorta	ABCA1 APOE CAPN1 EDN1 LDLR	19 1906 348 3949 823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	Cntn2	25356	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5614	eye disease	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	Fgfr2 Nell1 Nog	25022 25495 81733	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	Aldh7a1	110695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	CHRNG	1146	Homo sapiens (human)	Alliance of Genome Resources
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	Abo2 Abo3 Abo Ace2 Anpep Bpi C5ar1 Ccl2 Cd14 Cd4 Cd9 Fgf7 Fshb Hp Ifng Il10 Lhb Pecam1 Plat Serpina3c Serpina3n Tgfb1 Tnf Tshb	100301568 113959 24464 24770 24794 24795 24835 24932 24936 25325 25329 25447 25653 25692 25712 29348 29583 296321 296504 302668 59086 60350 65270 81641	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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