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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 **2476 - 2500** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	COL7A1	1294	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	3852	Homo sapiens (human)	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:0111348	multiple epiphyseal dysplasia with myopia and deafness Aliases: EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	VPS33B	26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2 Aliases: ARCS2	VIPAS39	63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111358	Floating-Harbor syndrome Aliases: FLHS	SRCAP	10847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111359	large congenital melanocytic nevus Aliases: Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN	HRAS NRAS	3265 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111363	Heinz body anemia	HBA1 HBA2 HBB	3039 3040 3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111366	familial hepatic adenoma Aliases: familial liver cell adenomas	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	CETP	1071	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111370	apolipoprotein C-III deficiency Aliases: HALP2 hyperalphalipoproteinemia 2	APOC3	345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111371	isolated hyperchlorhidrosis Aliases: HYCHL carbonic anhydrase XII deficiency	CA12	771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation Aliases: FPHH MUH melanosis universalis hereditaria	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111376	fetal akinesia deformation sequence syndrome 3 Aliases: FADS3	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources

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