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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 **8226 - 8250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111642	autosomal recessive nonsyndromic deafness 114 Aliases: DFNB114 autosomal recessive deafness 114	GRB2	2885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	Mpzl2	14012	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111639	autosomal recessive nonsyndromic deafness 109 Aliases: DFNB109 autosomal recessive deafness 109	fus	44095	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111638	autosomal recessive nonsyndromic deafness 100 Aliases: DFNB100 autosomal recessive deafness 100	PPIP5K2	23262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111637	autosomal recessive nonsyndromic deafness 112 Aliases: DFNB112 autosomal recessive deafness 112	BDP1	55814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	Ceacam16	330483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111635	autosomal recessive nonsyndromic deafness 57 Aliases: DFNB57 autosomal recessive deafness 57	PDZD7	79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	tmem132e	564044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	TMEM132E	124842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	Tmem132e	270893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	Sis	69983	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111632	familial erythrocytosis 6 Aliases: ECYT6 beta-globin type erythrocytosis beta-globin type polycythemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111631	familial erythrocytosis 7 Aliases: ECYT7 alpha-globin type erythrocytosis alpha-globin type polycythemia	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	GPM1	853705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	Bpgm	12183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111629	dihydropyrimidinase deficiency Aliases: DPH deficiency DPYS deficiency DPYSD dihydropyrimidinuria	Dpys	64705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111628	high myopia-sensorineural deafness syndrome Aliases: DFNMYP deafness and myopia deafness and myopia syndrome	SLITRK6	84189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	235582	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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