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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 **1051 - 1075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH1 MDH2	853777 853994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	INP53	854276	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	GIS1 GLO1 NHX1	851670 852066 855009	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	DIE2	853142	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	CTS2 GCY1 KEX2 LRO1 PHO8 YOL075C YPR1	851974 851977 852092 854080 854287 855483 855742	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4001	ovarian carcinoma	PBS2 RHO1 STE20	853313 856294 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	BPT1 NPP1 NPP2	850391 850645 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	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:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BNI1	855450	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	DIA3 PHO11 PHO12 PHO3 PHO5	851299 851537 852389 852390 856625	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	GPI16	856595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	ERS1	850438	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	HMG1 HMG2	851171 854900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	LAC1	853861	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	INP53	854276	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	855502	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ADP1 CTS2 HXK1 HXK2 TRE1 TRE2 VPS70	850369 850614 851977 852639 853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	YPS3 YPS7	850812 851950	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

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