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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 **11476 - 11500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	Lcat	16816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111991	immunodeficiency 62 Aliases: IMD62	Arhgef1	16801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	Arhgef2	16800	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	16795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	16795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	Lamp2	16784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	Lamb3	16780	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080380	nephrotic syndrome type 5 Aliases: nephrotic syndrome type 5, with or without ocular abnormalities	Lamb2	16779	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	Lamb2 Tns2	16779 209039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112230	lissencephaly 5 Aliases: LIS5	Lamb1	16777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	Daam2 Lama5	16776 76441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110438	dilated cardiomyopathy 1JJ Aliases: CMD1JJ	Lama4	16775	Mus musculus (house mouse)	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	16773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	Lalba Tgfa	16770 21802	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110703	hypotrichosis 6 Aliases: Hypotrichosis, Localized, Autosomal Recessive 1 Hypt6 Lah1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis	Dsg4	16769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4535	hypotrichosis	Dsg4	16769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	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: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: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: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:0111705	oculoectodermal syndrome Aliases: Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources

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