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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 **176 - 200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	MTSS1 MTSS2	92154 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	LARGE1	9215	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	LGI1	9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080494	ovarian dysgenesis 2	BMP15	9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112277	immunodeficiency 79 Aliases: IMD79	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:813	septic arthritis Aliases: infectious arthritis	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:10303	sialadenitis Aliases: Sialoadenitis	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110794	hereditary spastic paraplegia 42 Aliases: SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42	SLC33A1	9197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:630	genetic disease	COG7	91949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	NDUFAF2	91942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	SLC24A1	9187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	RFT1	91869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	ARHGEF2	9181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080930	primary localized cutaneous amyloidosis 1 Aliases: familial primary localized cutaneous amyloidosis-1	OSMR	9180	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111973	immunodeficiency 17 Aliases: CD3-gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive immunodeficiency 17, CD3 gamma deficient	CD3G	917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110424	dilated cardiomyopathy 1CC Aliases: CMD1CC	NEXN	91624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110326	hypertrophic cardiomyopathy 20 Aliases: CMH20 cardiomyopathy familial hypertrophic 20	NEXN	91624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111487	combined oxidative phosphorylation deficiency 7 Aliases: COXPD7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	SLC6A5	9152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	CD3D	915	Homo sapiens (human)	Alliance of Genome Resources
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources

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