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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 **8301 - 8325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	Kremen1	84035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081110	keratosis palmoplantaris striata 3	Krt1	16678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	Krt1	16678	Mus musculus (house mouse)	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:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Krt5 Pofut1 Poglut1	110308 140484 224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Krt5 Pofut1 Poglut1	288091 311551 369017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	Krt5	369017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	Krt5	369017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	L1cam	16728	Mus musculus (house mouse)	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 Nfasc	116690 50687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	L1cam	50687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	L2HGDH Msp300 cac	32158 35156 3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	L2HGDH	35156	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	35156	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	35156	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	LAC1 LAG1	853861 856386	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	LAC1	853861	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080244	Galloway-Mowat syndrome 2	LAGE3	8270	Homo sapiens (human)	Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	LALBA TGFA	3906 7039	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110438	dilated cardiomyopathy 1JJ Aliases: CMD1JJ	LAMA4	3910	Homo sapiens (human)	Alliance of Genome Resources

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