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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2101 - 2125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	54219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	CD320	51293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	362851	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	Efemp1	216616	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	EFEMP1	2202	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	Cfh Cfhr4	12628 214403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	Lgi1	252892	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	Lgi1	56839	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	LGI1	9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	pgp-1 pgp-3	178215 181326	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	Abcb1a Abcb1b	18669 18671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	Reln	24718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	Reln	19699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	Cpa6	329093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	ECM14	856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources

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