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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5826 - 5850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:2846	bruxism Aliases: Bruxism - teeth grinding Grinding teeth Teeth grinding sleep related bruxism	PGAP3	93210	Homo sapiens (human)	DisGeNET
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)	Alliance of Genome Resources
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)	DisGeNET
DOID:1059	intellectual disability	PGI1 SMC3	852495 853371	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:114	heart disease	PGI1	852495	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	PGI1	852495	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:440	neuromuscular disease	PGI1	852495	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	PGK1 SLC35G1	159371 5230	Homo sapiens (human)	DisGeNET
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	PGK1	5230	Homo sapiens (human)	DisGeNET
DOID:0110388	retinitis pigmentosa 10 Aliases: RP10	PGK1	5230	Homo sapiens (human)	DisGeNET
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	PGK1 ZWF1	850370 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	850370	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1	5236	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1 PGM2	853732 855131	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050161	lower respiratory tract disease	PGRP-LC PGRP-LE	32534 39063	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	PI4KA SLC25A1	5297 6576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	PI4KA	5297	Homo sapiens (human)	DisGeNET
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)	DisGeNET
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIG-B	38446	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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