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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 **13676 - 13700** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060848	developmental and epileptic encephalopathy 9 Aliases: DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation	PCDH19	57526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	fz4	31659	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	Fzd4	14366	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	Fzd4	64558	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	24660	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	Gdf3	14562	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	gdf3	493288	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	gdf3.S	394305	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	gdf3	30125	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	MFRP	83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	Mfrp	259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	Gdf6	252834	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	gdf6a gdf6b	30180 566470	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	Gdf6	242316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	Prss56	69453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	MYO5A	4644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	Myo5a	17918	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	Myo5a	25017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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