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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 **5351 - 5375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111994	immunodeficiency 45 Aliases: IMD45	IFNAR2	3455	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110864	congenital stationary night blindness 1F Aliases: CSNB1F congenital stationary night blindness 1F autosomal recessive	LRIT3	345193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111370	apolipoprotein C-III deficiency Aliases: HALP2 hyperalphalipoproteinemia 2	APOC3	345	Homo sapiens (human)	Alliance of Genome Resources
DOID:2972	renal artery obstruction	APOC3 CD40 SOD1	345 6647 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	APOC3 APOE	345 348	Homo sapiens (human)	Alliance of Genome Resources
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	LManII	34437	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	gny	34409	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	APOC2	344	Homo sapiens (human)	Alliance of Genome Resources
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	APOC2 LPL	344 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080263	autosomal recessive nonsyndromic deafness 108	Ror	34367	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110969	brachydactyly type B1 Aliases: BDB1	Ror	34367	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	Ror	34367	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	Ror Sdc	34367 37447	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080082	nonsyndromic congenital nail disorder 4 Aliases: HYPONYCHIA CONGENITA anonychia congenita	RSPO4	343637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	KCNT2	343450	Homo sapiens (human)	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	InR nAChRalpha2 nAChRalpha6 nAChRbeta2	34304 42549 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050419	complement factor I deficiency Aliases: C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY	CFI	3426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110025	age related macular degeneration 13 Aliases: ARMD13	CFI	3426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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