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 **1976 - 2000** of **15957** in total

« First

‹ Prev

…

76

77

78

79

80

81

82

83

84

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	Trpm4	68667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	BTD	686	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	SYP	6855	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112122	X-linked epilepsy with variable learning disabilities and behavior disorders Aliases: X-linked epilepsy-learning disabilities-behavior disorders syndrome	SYN1	6853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112029	non-syndromic X-linked intellectual disability 50 Aliases: MRX50 X-linked intellectual developmental disorder 50 X-linked mental retardation 50 XLID50	SYN1	6853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	Eml1	68519	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	Ints1	68510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112332	pontocerebellar hypoplasia type 13 Aliases: PCH13	Vps51	68505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	Gpihbp1	68453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	68421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	68401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112108	myofibrillar myopathy 10 Aliases: MFM10	SVIL	6840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112139	nuclear type mitochondrial complex I deficiency 35 Aliases: MC1DN35	Ndufb10	68342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1 Aliases: MC4DN1	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Cacna1s	682930	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3b	68292	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mto1	68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060286	combined oxidative phosphorylation deficiency	Mto1	68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060276	pontocerebellar hypoplasia type 7	Toe1	68276	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060264	pontocerebellar hypoplasia Aliases: PCH	Toe1	68276	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