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 **1251 - 1275** of **5716** in total

« First

‹ Prev

…

47

48

49

50

51

52

53

54

55

…

Next ›

Last »
Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1 Aliases: MC4DN1	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8 Aliases: MC4DN8	TACO1	51204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070508	metabolic dysfunction and alcohol associated liver disease Aliases: MetALD metabolic dysfunction and alcohol related liver disease	ALDH2 TNF	217 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070508	metabolic dysfunction and alcohol associated liver disease Aliases: MetALD metabolic dysfunction and alcohol related liver disease	Aldh2	29539	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy Aliases: PMSE PMSE syndrome Pretzel syndrome	STRADA	92335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	Atx2	41883	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	37028	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070520	peeling skin syndrome 1 Aliases: PSS1 generalized inflammatory peeling skin syndrome inflammatory peeling skin syndrome peeling skin syndrome type B	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070521	peeling skin syndrome 2 Aliases: PSS2	TGM5	9333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070525	peeling skin syndrome 6 Aliases: PSS6	FLG2	388698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	CHD4	1108	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	Slc1a4	55963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	SLC1A4	6509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	HNRNPH2	3188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	Hnrnph2	56258	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	SEC31A	22872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070540	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Aliases: ECHS1D	ECHS1	1892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070541	3-hydroxy-3-methylglutaryl-CoA lyase deficiency Aliases: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency HMG-CoA lyase deficiency HMGCL deficiency HMGCLD hydroxymethylglutaric aciduria	HMGCL	3155	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

Guidelines

International Collaboration

Acknowledgements