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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 **7751 - 7775** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
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	3852	Homo sapiens (human)	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:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLEC	5339	Homo sapiens (human)	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: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:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Cd151 Krt5 Mmp9	369017 64315 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Cd151 Dst Krt5 Mmp9 Plec	110308 12476 13518 17395 18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	shot	36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	CD151 DST KRT5 MMP9 PLEC	3852 4318 5339 667 977	Homo sapiens (human)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	W01F3.2 zmp-4	179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	Krt1	16678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081359	epidermolytic hyperkeratosis 2	KRT10	3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	Jup Krt1	16480 16678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	JUP KRT10 KRT1	3728 3848 3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:9402	epididymitis	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9402	epididymitis	IL6 TNF	3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9402	epididymitis	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources

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