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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 **8676 - 8700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081190	autosomal recessive intellectual developmental disorder 18	MED23	9439	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	MEF2C	4208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080746	Sweet syndrome Aliases: Acute Febrile Neutrophilic Dermatosis Sweet's syndrome	MEFV MMP2 MMP9	4210 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	MEGF8	1954	Homo sapiens (human)	Alliance of Genome Resources
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	MEI1	150365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	MEP2	855580	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	MEP2	855580	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	MERTK	10461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	MESD	23184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	MEST	4232	Homo sapiens (human)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	MET PRCC	4233 5546	Homo sapiens (human)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	MET PRKCA STRAP	11171 4233 5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	MET	4233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MEU1	850704	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	MEU1	850704	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	MEU1	850704	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	MFAP4 RAI1	10743 4239	Homo sapiens (human)	Alliance of Genome Resources
DOID:4415	fibrous histiocytoma Aliases: Fibroxanthoma benign fibrous histiocytoma	MFHAS1	9258	Homo sapiens (human)	Alliance of Genome Resources

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