GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **8001 - 8025** of **15957** in total

« First

‹ Prev

…

317

318

319

320

321

322

323

324

325

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	Itgb6	16420	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	Itgb6	311061	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Itgbn LanA LanB2 mew	32275 35368 38723 39118	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Itgbn Nrg Patj mys stan	31792 35368 36125 44100 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	Itgbn mew	32275 35368	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	Itm2b	16432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	Itm2b	16432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	Itm2b	290364	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	Itm2b	290364	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111578	Gillespie syndrome Aliases: GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome	Itpr1	16438	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050965	spinocerebellar ataxia type 15 Aliases: spinocerebellar ataxia type 16	Itpr1	16438	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050978	spinocerebellar ataxia type 29	Itpr1	16438	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	Itpr1 Nptx1	25262 266777	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111578	Gillespie syndrome Aliases: GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome	Itpr1	25262	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050965	spinocerebellar ataxia type 15 Aliases: spinocerebellar ataxia type 16	Itpr1	25262	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050978	spinocerebellar ataxia type 29	Itpr1	25262	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14753	isovaleric acidemia Aliases: Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria	Ivd	24513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	JAG1 NOTCH2	182 4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081042	T-cell prolymphocytic leukemia Aliases: Prolymphocytic leukemia, T-cell type T Cell Prolymphocytic Leukemia	JAK3	3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	JAM2 MYORG PDGFB PDGFRB SLC20A2	5155 5159 57462 58494 6575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	JPH1	56704	Homo sapiens (human)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	JUP KRT10 KRT1	3728 3848 3858	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements