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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:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	LAMB2 TNS2	23371 3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	lam-1	177292	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	Lamb2 Tns2	16779 209039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	Lamb2	25473	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060851	pemphigus vulgaris Aliases: familial pemphigus vulgaris	Dsg3 H2-Ab1	13512 14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060851	pemphigus vulgaris Aliases: familial pemphigus vulgaris	DSG3 HLA-DQB1	1830 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060850	annular pancreas	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060850	annular pancreas	gdf3	493288	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060850	annular pancreas	Gdf1 Ihh	14559 16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060850	annular pancreas	gdf3	30125	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060850	annular pancreas	GDF1 IHH	2657 3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
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	279653	Mus musculus (house mouse)	Alliance of Genome Resources
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	555688	Danio rerio (zebrafish)	Alliance of Genome Resources
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

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