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 **12726 - 12750** of **15957** in total

« First

‹ Prev

…

506

507

508

509

510

511

512

513

514

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	SERPINF1	5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	Hnrnpu	51810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ADA2	51816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080487	peroxisome biogenesis disorder 13A Aliases: peroxisome biogenesis disorder 13A (Zellweger)	PEX14	5195	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111768	X-linked properdin deficiency Aliases: CFPD complement factor properdin deficiency	CFP	5199	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	Nus1	52014	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080553	congenital disorder of glycosylation Iaa Aliases: congenital disorder of glycosylation 1aa	Nus1	52014	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	Hgsnat	52120	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	Hgsnat	52120	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060209	amyotrophic lateral sclerosis type 18 Aliases: ALS18 amyotrophic lateral sclerosis 18	PFN1	5216	Homo sapiens (human)	Alliance of Genome Resources
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	ACTA2 GJC2 PGF	5228 57165 59	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	Vps37a	52348	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1 PGM5	5236 5239	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	ABCB1 CD86 TNF TSLP	5243 7124 85480 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	ABCB4	5244	Homo sapiens (human)	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