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 **13126 - 13150** of **14279** in total

« First

‹ Prev

…

522

523

524

525

526

527

528

529

530

…

Next ›

Last »
Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:417	autoimmune disease	HGNC:18187	Homo sapiens (human)	54414	SIAE	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080076	Neu-Laxova syndrome 1	HGNC:8923	Homo sapiens (human)	26227	PHGDH	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110661	congenital myasthenic syndrome 20	HGNC:14025	Homo sapiens (human)	60482	SLC5A7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070220	familial hyperinsulinemic hypoglycemia 5	HGNC:6091	Homo sapiens (human)	3643	INSR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050679	blue cone monochromacy	HGNC:9936	Homo sapiens (human)	5956	OPN1LW	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111707	Bothnian type palmoplantar keratoderma	HGNC:638	Homo sapiens (human)	362	AQP5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080131	mitochondrial DNA depletion syndrome 13	HGNC:13601	Homo sapiens (human)	26235	FBXL4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080329	cold-induced sweating syndrome 1	HGNC:2364	Homo sapiens (human)	9244	CRLF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070258	congenital disorder of glycosylation type IIf	HGNC:11021	Homo sapiens (human)	10559	SLC35A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies	HGNC:23156	Homo sapiens (human)	11338	U2AF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060812	syndromic X-linked intellectual disability Siderius type	HGNC:20672	Homo sapiens (human)	23133	PHF8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112040	non-syndromic X-linked intellectual disability 100	HGNC:13339	Homo sapiens (human)	24137	KIF4A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080612	anterior segment dysgenesis 7	HGNC:14966	Homo sapiens (human)	7837	PXDN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111162	epidermal nevus	HGNC:8975	Homo sapiens (human)	5290	PIK3CA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111903	thrombophilia due to HRG deficiency	HGNC:5181	Homo sapiens (human)	3273	HRG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity	HGNC:9462	Homo sapiens (human)	5631	PRPS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110915	childhood hypophosphatasia	HGNC:438	Homo sapiens (human)	249	ALPL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081061	nephrogenic diabetes insipidus type 2	HGNC:634	Homo sapiens (human)	359	AQP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110064	amelogenesis imperfecta type 1H	HGNC:6161	Homo sapiens (human)	3694	ITGB6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111287	psoriasis 13	HGNC:1343	Homo sapiens (human)	10758	TRAF3IP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110928	nemaline myopathy 2	HGNC:7720	Homo sapiens (human)	4703	NEB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112164	spermatogenic failure 46	HGNC:2952	Homo sapiens (human)	1769	DNAH8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060971	interstitial lung disease 2	HGNC:10799	Homo sapiens (human)	729238	SFTPA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3371	chondrosarcoma	HGNC:3512	Homo sapiens (human)	2131	EXT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060794	hypomyelinating leukodystrophy 7	HGNC:30074	Homo sapiens (human)	11128	POLR3A	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