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 **13176 - 13200** of **14279** in total

« First

‹ Prev

…

524

525

526

527

528

529

530

531

532

…

Next ›

Last »
Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:0110124	Bardet-Biedl syndrome 2	HGNC:967	Homo sapiens (human)	583	BBS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z	HGNC:23573	Homo sapiens (human)	22880	MORC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081060	X-linked nephrogenic diabetes insipidus	HGNC:897	Homo sapiens (human)	554	AVPR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110014	age related macular degeneration 1	HGNC:19194	Homo sapiens (human)	83872	HMCN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070610	autosomal dominant nonsyndromic deafness 86	HGNC:19070	Homo sapiens (human)	9984	THOC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050156	idiopathic pulmonary fibrosis	HGNC:10799	Homo sapiens (human)	729238	SFTPA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070047	Schuurs-Hoeijmakers Syndrome	HGNC:30032	Homo sapiens (human)	55690	PACS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111167	Dyggve-Melchior-Clausen disease	HGNC:21317	Homo sapiens (human)	54808	DYM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050986	spinocerebellar ataxia type 40	HGNC:19967	Homo sapiens (human)	440193	CCDC88C	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3748	esophagus squamous cell carcinoma	HGNC:11773	Homo sapiens (human)	7048	TGFBR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood	HGNC:12771	Homo sapiens (human)	8838	CCN6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110980	Joubert syndrome 1	HGNC:21474	Homo sapiens (human)	56623	INPP5E	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110034	X-linked Alport syndrome	HGNC:2207	Homo sapiens (human)	1287	COL4A5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112168	autosomal dominant nonsyndromic deafness 77	HGNC:51	Homo sapiens (human)	4363	ABCC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:29271	Homo sapiens (human)	57169	ZNFX1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110539	autosomal recessive nonsyndromic deafness 97	HGNC:7029	Homo sapiens (human)	4233	MET	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2841	asthma	HGNC:7518	Homo sapiens (human)	4589	MUC7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111961	immunodeficiency 26	HGNC:9413	Homo sapiens (human)	5591	PRKDC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112181	Schinzel type phocomelia	HGNC:12786	Homo sapiens (human)	7476	WNT7A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110871	congenital stationary night blindness 2A	HGNC:1393	Homo sapiens (human)	778	CACNA1F	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails	HGNC:2214	Homo sapiens (human)	1294	COL7A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060781	congenital secretory sodium diarrhea 3	HGNC:11247	Homo sapiens (human)	10653	SPINT2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080839	X-linked warfarin sensitivity	HGNC:3551	Homo sapiens (human)	2158	F9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070134	autosomal recessive cutis laxa type IIA	HGNC:18481	Homo sapiens (human)	23545	ATP6V0A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060892	late onset Parkinson's disease	HGNC:251	Homo sapiens (human)	126	ADH1C	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