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 **13501 - 13525** of **14279** in total

« First

‹ Prev

…

537

538

539

540

541

542

543

544

545

…

Next ›

Last »
Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:0080299	partial lipodystrophy	HGNC:6638	Homo sapiens (human)	84823	LMNB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070041	autosomal dominant intellectual developmental disorder 11	HGNC:3378	Homo sapiens (human)	2036	EPB41L1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11555	Fuchs' endothelial dystrophy	HGNC:16438	Homo sapiens (human)	83959	SLC4A11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1572	normal pressure hydrocephalus	HGNC:26684	Homo sapiens (human)	80217	CFAP43	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060453	Reis-Bucklers corneal dystrophy	HGNC:11771	Homo sapiens (human)	7045	TGFBI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070482	spinal neurofibromatosis	HGNC:7765	Homo sapiens (human)	4763	NF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080046	Stickler syndrome	HGNC:2218	Homo sapiens (human)	1298	COL9A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	HGNC:2389	Homo sapiens (human)	1410	CRYAB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12365	malaria	HGNC:5344	Homo sapiens (human)	3383	ICAM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111634	autosomal recessive nonsyndromic deafness 99	HGNC:26991	Homo sapiens (human)	124842	TMEM132E	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112233	lissencephaly 8	HGNC:26899	Homo sapiens (human)	160418	TMTC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111258	pentosuria	HGNC:18985	Homo sapiens (human)	51181	DCXR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N	HGNC:20	Homo sapiens (human)	16	AARS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9410	combined pituitary hormone deficiency	HGNC:18666	Homo sapiens (human)	55599	RNPC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8632	Kaposi's sarcoma	HGNC:3581	Homo sapiens (human)	2186	BPTF	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4971	myelofibrosis	HGNC:7217	Homo sapiens (human)	4352	MPL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8398	osteoarthritis	HGNC:3959	Homo sapiens (human)	2487	FRZB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10605	short bowel syndrome	HGNC:24039	Homo sapiens (human)	79827	CLMP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	HGNC:2023	Homo sapiens (human)	1184	CLCN5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111863	X-linked congenital bilateral absence of vas deferens	HGNC:4516	Homo sapiens (human)	10149	ADGRG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070516	Mitchell syndrome	HGNC:119	Homo sapiens (human)	51	ACOX1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110480	autosomal recessive nonsyndromic deafness 22	HGNC:16378	Homo sapiens (human)	146183	OTOA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110609	primary ciliary dyskinesia 23	HGNC:25583	Homo sapiens (human)	55130	ODAD2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050963	spinocerebellar ataxia type 13	HGNC:6235	Homo sapiens (human)	3748	KCNC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C	HGNC:11278	Homo sapiens (human)	9517	SPTLC2	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