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 **8751 - 8775** of **15957** in total

« First

‹ Prev

…

347

348

349

350

351

352

353

354

355

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:114	heart disease	MOT2 PGI1	852495 856799	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	MPDU1	9526	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI	4351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	MPL	4352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081384	ataxia-telangiectasia-like disorder-1	MRE11	4361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111469	combined oxidative phosphorylation deficiency 16 Aliases: COXPD16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	MRPL44	65080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111473	combined oxidative phosphorylation deficiency 5 Aliases: COXPD5 hypotonia with lactic acidemia and hyperammonemia	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080499	ovarian dysgenesis 7	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112115	combined oxidative phosphorylation deficiency 46 Aliases: COXPD46	MRPS23	51649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111492	combined oxidative phosphorylation deficiency 32 Aliases: COXPD32	MRPS34	65993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111998	immunodeficiency 66 Aliases: IMD66	MRTFA	57591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081148	common variable immunodeficiency 5	MS4A1	931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070271	Lynch syndrome 1 Aliases: FCC1 HNPCC1 familial nonpolyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1	MSH2	4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070164	spermatogenic failure 2 Aliases: SPGF2	MSH4	4438	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070272	hereditary nonpolyposis colorectal cancer type 5 Aliases: HNPCC5	MSH6	2956	Homo sapiens (human)	Alliance of Genome Resources
DOID:4897	bile duct carcinoma	MSLN SLC7A5	10232 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:26	pancreas disease	MSLN	10232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112001	immunodeficiency 50 Aliases: CID due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency combined immunodeficiency due to Moesin deficiency immunodeficiency 50 X linked recessive	MSN	4478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	MSTN	2660	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