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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

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Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:0060969	galactosemia 4	HGNC:24063	Homo sapiens (human)	130589	GALM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070391	developmental and epileptic encephalopathy 105	HGNC:15736	Homo sapiens (human)	283987	HID1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111872	nonphotosensitive trichothiodystrophy 6	HGNC:4651	Homo sapiens (human)	2961	GTF2E2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080348	Alzheimer's disease 1	HGNC:9052	Homo sapiens (human)	5328	PLAU	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10595	Charcot-Marie-Tooth disease	HGNC:3602	Homo sapiens (human)	10516	FBLN5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111223	centronuclear myopathy 1	HGNC:26190	Homo sapiens (human)	64419	MTMR14	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110734	neurodegeneration with brain iron accumulation	HGNC:3976	Homo sapiens (human)	2495	FTH1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060943	Ullrich congenital muscular dystrophy 1C	HGNC:2213	Homo sapiens (human)	1293	COL6A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081205	autosomal recessive intellectual developmental disorder 40	HGNC:11536	Homo sapiens (human)	6873	TAF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110617	primary ciliary dyskinesia 5	HGNC:19368	Homo sapiens (human)	54768	HYDIN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080234	Clark-Baraitser syndrome	HGNC:12306	Homo sapiens (human)	9320	TRIP12	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090122	aromatase excess syndrome	HGNC:2594	Homo sapiens (human)	1588	CYP19A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070281	primary autosomal recessive microcephaly 19	HGNC:2232	Homo sapiens (human)	9276	COPB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112145	retinitis pigmentosa 88	HGNC:15946	Homo sapiens (human)	94137	RP1L1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112160	autosomal dominant nonsyndromic deafness 79	HGNC:21088	Homo sapiens (human)	79966	SCD5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy	HGNC:392	Homo sapiens (human)	208	AKT2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation	HGNC:6343	Homo sapiens (human)	4254	KITLG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081397	Vissers-Bodmer syndrome	HGNC:7877	Homo sapiens (human)	23019	CNOT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070266	congenital disorder of glycosylation type IIn	HGNC:20862	Homo sapiens (human)	64116	SLC39A8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110021	age related macular degeneration 9	HGNC:1318	Homo sapiens (human)	718	C3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070254	congenital disorder of glycosylation type IIb	HGNC:24862	Homo sapiens (human)	7841	MOGS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060230	basal ganglia calcification	HGNC:19918	Homo sapiens (human)	57462	MYORG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2218	blood platelet disease	HGNC:6156	Homo sapiens (human)	3690	ITGB3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070044	Coffin-Siris syndrome 2	HGNC:11110	Homo sapiens (human)	8289	ARID1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080568	congenital disorder of glycosylation Iq	HGNC:25812	Homo sapiens (human)	79644	SRD5A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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