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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 **3376 - 3400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	497644	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111580	Behr syndrome Aliases: Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080336	mitochondrial DNA depletion syndrome 14	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	OPA1 WFS1	4976 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ext1a ext1b	497279 497280	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	ppp1cb	496958	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	alg6	496948	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1	496884	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	rspo2	496854	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	OGG1 PTEN STAT1 STAT3 TSC2	4968 5728 6772 6774 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	colec10	496663	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	496641	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ndst1	496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ndst1	496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1	496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	liph	496511	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	pld3	496432	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1	496411	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	rspo2.L	496383	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	pomk.L	496338	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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