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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 **15476 - 15500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0080060	autosomal recessive spinocerebellar ataxia 12 Aliases: SCAR12	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080452	developmental and epileptic encephalopathy 28 Aliases: DEE28 early infantile epileptic encephalopathy 28	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110330	Leber congenital amaurosis 13 Aliases: LCA13	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	TRE1 TRE2	854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081075	Marsili syndrome Aliases: congenital analgesia congenital insensitivity to pain	ZFHX2	85446	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	SNF2	854465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070046	Coffin-Siris syndrome 4 Aliases: CSS4 MRD16 autosomal dominant mental retardation 16	SNF2	854465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050340	opportunistic bacterial infectious disease	SNF2	854465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SNF2	854465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PYK2	854529	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	PYK2	854529	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060540	Hermansky-Pudlak syndrome 2	AP3B1	8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070185	X-linked spermatogenic failure 2 Aliases: SPGFX2	SPO22	854737	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111474	combined oxidative phosphorylation deficiency 1 Aliases: COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GFM1	85476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CBR1	854768	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CBR1	854768	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	YKE4	854789	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3	YKE4	854789	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081141	agammaglobulinemia 9	YKE4	854789	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	PAN1	854822	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	MDM1	854867	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources

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