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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 **11826 - 11850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	Htr2a	15558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2537	inflammatory and toxic neuropathy	Htr2a	15558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	Icam1 Mbl2 Ndst1 Npsr1 Sftpb Sftpd Sod1 Vegfa	15531 15894 17195 20388 20390 20655 22339 319239	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	Hspa9	15526	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	Abcg8 Apob Ccl2 Cd40lg Crp F7 Hsd11b1 Hspa1a Kl Lcat Ldlr Lep Lpl Mmp9 Nos3 Rgn Sdc1 Tfpi Tgfb1 Vcam1	155192 24472 24530 24539 24600 24770 25106 25116 25216 25361 25419 25608 260320 29436 300438 54225 59086 81687 83504 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	Hspd1	15510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	Hspd1	15510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	Hspb1	15507	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F Aliases: CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F	Hspb1	15507	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	Atrx Ccl2 Fus Hspb1 Kdr Met Pdhx Ptprb Srebf2 Trp53	15507 16542 17295 19263 20296 20788 22059 22589 233908 27402	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110429	dilated cardiomyopathy 1H Aliases: dilated cardiomyopathy with conduction defect	ADRB3 AIFM1 CYP11B2 HLA-DQA1 HLA-DQB1 TNF TRPC5	155 1585 3117 3119 7124 7224 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	Hsd17b7	15490	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	Hsd17b4	15488	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	Hsd17b4 Trak1	15488 67095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	Hsd11b1	15483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Agfg1 Spata20	15463 217116	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	Cftr Ugt1a7c Ugt1a8	154516 24255 301595	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080611	anterior segment dysgenesis 6	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:11212	hydrophthalmos	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060673	Peters anomaly	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources

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