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 **4376 - 4400** of **15957** in total

« First

‹ Prev

…

172

173

174

175

176

177

178

179

180

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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	Itga6 Itgb4	16403 192897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	Itga7	16404	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080866	primary ovarian insufficiency 9	HFM1	164045	Homo sapiens (human)	Alliance of Genome Resources
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	Cps1 Itgam Nos3	16409 18127 227231	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	Itgb2 Itgb2l	16414 16415	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	Itgb2 Itgb2l	16414 16415	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	Eif6 Serpini2	16418 67931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	DDB1 POLH TERF2 XPC	1642 5429 7014 7508	Homo sapiens (human)	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:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	Stt3a Stt3b	16430 68292	Mus musculus (house mouse)	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:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	Atxn1 Atxn1l Atxn2 Atxn2l Itpr1 Itpr3 Nptx1 Ppp2r2b	16438 16440 18164 20238 20239 233871 52335 72930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	Abcc8 Ep300 Itpr1 Tnf Trpm4	16438 20927 21926 328572 68667	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: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:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	Jag1 Notch2	16449 18129	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11252	microcytic anemia	DNM1 DNM2 TMPRSS6	164656 1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080365	endometrial hyperplasia	Car9 Jup Kras	16480 16653 230099	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	Jup Krt1	16480 16678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	Jup	16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080551	Naxos disease	Jup	16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Kcna1 Kcna2 Kcna3 Kcna4 Kcna5 Kcna7	16485 16490 16491 16492 16493 16495	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	Kcna2	16490	Mus musculus (house mouse)	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