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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **726 - 750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:10866	total third-nerve palsy Aliases: Third nerve palsy with pupil involved Third or oculomotor nerve palsy, total Total third nerve palsy	ACSM3	6296	Homo sapiens (human)	DisGeNET
DOID:10864	partial third-nerve palsy Aliases: Partial third nerve palsy Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial	ACSM3	6296	Homo sapiens (human)	DisGeNET
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	Otogl	628870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:12165	retinal lattice degeneration Aliases: Palisade degeneration of retina	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:0110016	Leber congenital amaurosis 2 Aliases: LCA2 amaurosis congenita of Leber II	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:8465	retinoschisis	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	IL1RL1 RPE	6120 9173	Homo sapiens (human)	DisGeNET
DOID:0090059	enhanced S-cone syndrome	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0050882	spinocerebellar ataxia type 5	ELOVL5	60481	Homo sapiens (human)	DisGeNET
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	ELOVL4 ELOVL5	60481 6785	Homo sapiens (human)	DisGeNET
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	alg2	595052	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	alg2	595052	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	alg1	594994	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	galnt1	594943	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	b3gat2	594928	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3	594895	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources

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