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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 **12626 - 12650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:11372	megacolon Aliases: Dilatation of colon	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	Ednrb	50672	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:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	Slc6a8	50690	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	Plaur	50692	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080625	severe congenital neutropenia 1	Elane	50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	Elane	50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2562	suppurative periapical periodontitis Aliases: Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis	Elane	50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	Sacs	50720	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070024	autosomal recessive dyskeratosis congenita 6 Aliases: DKCB6	PARN	5073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	Tfr2	50765	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	Dlc1	50768	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	50785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	50798	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4137	common bile duct disease	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources

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