GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Alliance of Genome Resources ID

Species

Gene ID

Gene Symbol

FlyGlycoDB

Evidence

References

Display
results per page.

Clear

Submissions

Alliance of Genome Resources

Alliance of Genome Resources is a gene dataset, which contains curated genome information essential for the understanding of the genetics and genomic basis of human biology, health and disease. All data is retrieved from six major model organism databases and the Gene Ontology including FlyBase, Mouse Genome Database (MGI), Rat Genome Database (RGD), Saccharomyces Genome Database (SGD), WormBase, Zebrafish Information Network (ZFIN), and the GO Consortium. In GlyCosmos, only glycan-related disease information has been extracted from Alliance of Genome Resources.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025

Displaying entries **14126 - 14150** of **14279** in total

« First

‹ Prev

…

562

563

564

565

566

567

568

569

570

…

Next ›

Last »
Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:0110354	retinitis pigmentosa 19	HGNC:34	Homo sapiens (human)	24	ABCA4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070096	oculocutaneous albinism type II	HGNC:6929	Homo sapiens (human)	4157	MC1R	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060698	hyperekplexia 3	HGNC:11051	Homo sapiens (human)	9152	SLC6A5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060692	platelet-type bleeding disorder 8	HGNC:18124	Homo sapiens (human)	64805	P2RY12	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070158	hereditary sensory neuropathy type 1E	HGNC:2976	Homo sapiens (human)	1786	DNMT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5520	head and neck squamous cell carcinoma	HGNC:11905	Homo sapiens (human)	8795	TNFRSF10B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110626	primary ciliary dyskinesia 2	HGNC:30492	Homo sapiens (human)	352909	DNAAF3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2752	glycogen storage disease II	HGNC:4065	Homo sapiens (human)	2548	GAA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070376	developmental and epileptic encephalopathy 31B	HGNC:2972	Homo sapiens (human)	1759	DNM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	HGNC:11528	Homo sapiens (human)	6870	TACR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081188	autosomal recessive intellectual developmental disorder 14	HGNC:4551	Homo sapiens (human)	9524	TECR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14	HGNC:2711	Homo sapiens (human)	1639	DCTN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1700	X-linked ichthyosis	HGNC:11425	Homo sapiens (human)	412	STS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080331	cold-induced sweating syndrome 3	HGNC:15646	Homo sapiens (human)	55975	KLHL7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111127	nephronophthisis 20	HGNC:29536	Homo sapiens (human)	23005	MAPKBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10584	retinitis pigmentosa	HGNC:23302	Homo sapiens (human)	80201	HKDC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111141	delayed sleep phase syndrome	HGNC:2384	Homo sapiens (human)	1407	CRY1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1	HGNC:18884	Homo sapiens (human)	55775	TDP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080454	developmental and epileptic encephalopathy 42	HGNC:1388	Homo sapiens (human)	773	CACNA1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060602	alpha-methylacyl-CoA racemase deficiency	HGNC:451	Homo sapiens (human)	23600	AMACR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050773	paraganglioma	HGNC:26034	Homo sapiens (human)	54949	SDHAF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080789	Treacher Collins syndrome 1	HGNC:11654	Homo sapiens (human)	6949	TCOF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080403	orofacial cleft 10	HGNC:12502	Homo sapiens (human)	7341	SUMO1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111094	Fanconi anemia complementation group N	HGNC:26144	Homo sapiens (human)	79728	PALB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12554	hemolytic-uremic syndrome	HGNC:24338	Homo sapiens (human)	29071	C1GALT1C1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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

Guidelines

International Collaboration

Acknowledgements