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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **126 - 150** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050565	autosomal recessive nonsyndromic deafness	CDH23 CLRN2 GPR156 MINAR2 PKHD1L1 TMTC4	100127206 165829 64072 645104 84899 93035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050567	orofacial cleft	ACSS2 LOXHD1 MYH9	125336 4627 55902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	CDK5RAP2	55755	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	Pmm2	54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	dpm1	445202	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	Pmm2	39436	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	ALG12 ALG1 ALG5 ALG6 ALG8 ALG9 RFT1	852261 852407 854163 854233 855502 855764 855874	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC37A4	10159 2542 2590 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	nac	40981	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	eys	557044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	TRAF3IP1	26146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050577	cranioectodermal dysplasia Aliases: Levin syndrome Sensenbrenner syndrome	SEC12	855760	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050578	occult macular dystrophy	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	Gyg1	27357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 PIEZO1 THSD1 TIE1	10203 285 55901 7075 9620 9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	Flt4 Vegfc	14257 22341	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050581	brachydactyly	HOXD13 SLC26A2	1836 3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050587	trichotillomania	SLITRK1	114798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	fkrp	571426	Danio rerio (zebrafish)	Alliance of Genome Resources

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