GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **10476 - 10500** of **15957** in total

« First

‹ Prev

…

416

417

418

419

420

421

422

423

424

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	Bmp1 Col1a1 Col1a2 Phldb1 Smad4	102693 12153 12842 12843 17128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	Gpc4	14735	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	Brinp3 Ccl2 Col1a1 Ctsc Il10 Il1r2 Il2 Postn Ppia	12842 13032 16153 16178 16183 20296 215378 268373 50706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050711	aceruloplasminemia	Cp	12870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	Sp7	170574	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080015	physical disorder Aliases: congenital disorder	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	Alg6	320438	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	Prdx1	18477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	Chrna2	110902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	Ccl11 Ccl7	20292 20306	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110017	age related macular degeneration 4 Aliases: ARMD4	Cfh Cfhr4	12628 214403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	Depdc5 Dnm1 Dnm2 Dnm3 Gnao1 Kcnh5 Kcnq2 Kcnq3 Pigk Slc32a1 Stxbp1 Sv2a	103967 110862 13429 13430 14681 16536 20910 22348 238271 277854 329777 64051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	Drc1	381738	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	Cnp F2 Il4 Mmp1a Pla2g7 Procr Tlr2 Tlr4 Vcam1	12799 14061 16189 19124 21898 22329 24088 27226 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	Erbb3	13867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	Cpn1	93721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110217	Leber congenital amaurosis 17 Aliases: LCA17	Gdf6	242316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	Ptpn11 Ptpn6	15170 19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	Ctla4 H2-Ab1 Icos	12477 14961 54167	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9182	pemphigus	Cast Cd36 Cd40 Cd40lg H2-Aa H2-Ab1 H2-Eb1 Il2 Mbl2	12380 12491 14960 14961 14969 16183 17195 21939 21947	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	Spint2	20733	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	Hcn4	330953	Mus musculus (house mouse)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements