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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 **4326 - 4350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:431	myofascial pain syndrome	PTGS2	5743	Homo sapiens (human)
DOID:14181	calcific tendinitis	PTGS2	5743	Homo sapiens (human)
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	PTGS2	5743	Homo sapiens (human)
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	MYORG	57462	Homo sapiens (human)
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	ELOVL4 ELOVL5	60481 6785	Homo sapiens (human)
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)
DOID:0050882	spinocerebellar ataxia type 5	ELOVL5	60481	Homo sapiens (human)
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)
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)
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)
DOID:0090059	enhanced S-cone syndrome	NYX	60506	Homo sapiens (human)
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	IL1RL1 RPE	6120 9173	Homo sapiens (human)
DOID:0110016	Leber congenital amaurosis 2 Aliases: LCA2 amaurosis congenita of Leber II	RPE	6120	Homo sapiens (human)
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	RPE	6120	Homo sapiens (human)
DOID:8465	retinoschisis	RPE	6120	Homo sapiens (human)
DOID:12165	retinal lattice degeneration Aliases: Palisade degeneration of retina	RPE	6120	Homo sapiens (human)
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	RPE	6120	Homo sapiens (human)
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)
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)
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)
DOID:11550	oculomotor nerve paralysis Aliases: III nerve palsy IIIrd nerve Paralysis Third cranial nerve paralysis	ACSM3	6296	Homo sapiens (human)
DOID:11786	splenic sequestration	SCD	6319	Homo sapiens (human)

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