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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4326 - 4350** of **5716** in total

« First

‹ Prev

…

170

171

172

173

174

175

176

177

178

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type Aliases: Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	DES MAP2K3 MAP2K6 TNNI3	1674 5606 5608 7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	L1cam	16728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	Krt2	16681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Krt18 Mc4r	16668 17202	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060581	Noonan syndrome 3 Aliases: NS3	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:289	endometriosis	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4905	pancreatic carcinoma Aliases: Exocrine pancreas carcinoma carcinoma of pancreas	Kras Myc	16653 17869	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090113	RIDDLE syndrome Aliases: RNF168 deficiency Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome	RNF168	165918	Homo sapiens (human)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:350	mastocytosis Aliases: mast cell hyperplasia	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1934	dysostosis	Kif3a	16568	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	Kif3a Ptma Xylt2	16568 19231 217119	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	Kif21a Tubb3	16564 22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060287	cornea plana Aliases: flat cornea	Kera	16545	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	DDX3X NKAP ZFX	1654 7543 79576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080462	developmental and epileptic encephalopathy 7 Aliases: KCNQ2-related epileptic encephalopathy KCNQ2-related neonatal epileptic encephalopathy early infantile epileptic encephalopathy 7	Kcnq2	16536	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	16535	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	Kcnh2	16511	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

Guidelines

International Collaboration

Acknowledgements