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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 **2226 - 2250** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	CNNM4	26504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	MAST1	22983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111398	congenital dyserythropoietic anemia type Ia Aliases: CDA Ia CDAN1A	CDAN1	146059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111396	congenital dyserythropoietic anemia type I Aliases: CDA I CDA type 1 CDA type I Congenital dyserythropoietic anaemia type 1 Congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anaemia type I	CDAN1	146059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Aliases: IBMPFD2 MSP2 multisystem proteinopathy 2	HNRNPA2B1	3181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	MUSK	4593	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
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:0111371	isolated hyperchlorhidrosis Aliases: HYCHL carbonic anhydrase XII deficiency	CA12	771	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:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	CETP	1071	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: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:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	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: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:0111358	Floating-Harbor syndrome Aliases: FLHS	SRCAP	10847	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:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	VPS33B	26276	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:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources

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