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 **15651 - 15675** of **15957** in total

« First

‹ Prev

…

623

624

625

626

627

628

629

630

631

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	TNFSF11	8600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:3033	colon signet ring adenocarcinoma Aliases: Colonic Signet Ring adenocarcinoma	RUNX1	861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Aliases: CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD	CDK13	8621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111926	spermatogenic failure 39 Aliases: SPGF39	DNAH17	8632	Homo sapiens (human)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy Aliases: cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080585	Van Maldergem syndrome 1	DCHS1	8642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070232	benign recurrent intrahepatic cholestasis 2 Aliases: BRIC type 2 BRIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081228	autosomal recessive intellectual developmental disorder 67	EIF3F	8665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	8674033	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111053	platelet-type bleeding disorder 15 Aliases: BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related	ACTN1	87	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110605	primary ciliary dyskinesia 7 Aliases: CILD7 primary ciliary dyskinesia 7 with or without situs inversus	DNAH11	8701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	SERPINH1	871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111467	combined oxidative phosphorylation deficiency 13 Aliases: COXPD13	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	MBTPS1	8720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	CTSF	8722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	GBF1	8729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111952	immunodeficiency 57 Aliases: IMD57 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome immunodeficiency 57 with autoinflammation	RIPK1	8737	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

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements