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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1226 - 1250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	dhtkd1	494076	Danio rerio (zebrafish)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ext1a ext1b ext1c ext2 extl3	493780 493783 497279 497280 497281	Danio rerio (zebrafish)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	pomk	492773	Danio rerio (zebrafish)
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	pomk	492773	Danio rerio (zebrafish)
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	pomk	492773	Danio rerio (zebrafish)
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)
DOID:10816	duodenum adenocarcinoma Aliases: Duodenal adenocarcinoma	CD44 NTHL1	4913 960	Homo sapiens (human)
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	NTHL1 PGAP1 ST3GAL3 TECR TUSC3	4913 6487 7991 80055 9524	Homo sapiens (human)
DOID:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)
DOID:2050	acute maxillary sinusitis Aliases: acute antritis	NT5E	4907	Homo sapiens (human)
DOID:2051	maxillary sinusitis	NT5E	4907	Homo sapiens (human)
DOID:4734	calciphylaxis	NT5E	4907	Homo sapiens (human)
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E	4907	Homo sapiens (human)
DOID:3039	cecum adenocarcinoma Aliases: Cecal adenocarcinoma	NT5E	4907	Homo sapiens (human)
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	NT5E	4907	Homo sapiens (human)
DOID:10792	chronic maxillary sinusitis Aliases: chronic antritis	NT5E	4907	Homo sapiens (human)
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)
DOID:0050645	arterial tortuosity syndrome	NT5E SLC2A10	4907 81031	Homo sapiens (human)
DOID:0060322	mastoiditis	NT5E TLR2 TLR4	4907 7097 7099	Homo sapiens (human)
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL18R1 NT5E PLCG2	4907 5336 8809	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:2562	suppurative periapical periodontitis Aliases: Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis	CD44 ENPP1 NT5E	4907 5167 960	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:525	central nervous system vasculitis	PNP	4860	Homo sapiens (human)

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