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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 **12401 - 12425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ash1	40133	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	Camk2b	12323	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	Camk2a	25400	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	Camk2a	12322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	nus1	436629	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	Nus1	52014	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	Cltc	67300	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	ttr.L	397787	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	Ttr	24856	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080218	primary spontaneous pneumothorax	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lip1 Lip3	41643 43973	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	lipl-1 lipl-2 lipl-3 lipl-4 lipl-5	178563 178572 179046 179771 185840	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080212	polycystic kidney disease 4	Pkhd1	241035	Mus musculus (house mouse)	Alliance of Genome Resources

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