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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 **5851 - 5875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:8553	pyoderma gangrenosum	W01F3.2 zmp-4	179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	W01F3.2 zmp-4	179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT TRPV1	18 7442	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	dpf-1 hex-1	180042 180533	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080642	Middle East respiratory syndrome	dpf-1 dpf-2	180042 181579	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	dpf-1	180042	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080488	mucolipidosis	Gnptab Neu1	18010 432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg-1 gyg-2	180119 180644	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	Nf1 Vegfa	18015 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111683	neurofibromatosis-Noonan syndrome Aliases: NFNS Noonan neurofibromatosis syndrome neurofibromatosis type 1-Noonan syndrome neurofibromatosis with Noonan phenotype	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070483	Watson syndrome	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5151	plexiform neurofibroma	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4992	optic nerve glioma Aliases: glioma of the optic nerve	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070476	diphthamide deficiency syndrome Aliases: DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	adm-4 asp-17 lev-9	180250 181041 188252	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080827	human cytomegalovirus infection	asp-1	180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	asp-1	180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	asp-1	180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	asp-1	180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	asp-1	180251	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	Nfia	18027	Mus musculus (house mouse)	Alliance of Genome Resources

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