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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1376 - 1400** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080074	neural tube defect	CBS FUZ MTHFD1 MTHFD1L TBXT	25902 4522 6862 80199 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080074	neural tube defect	Lrp6	16974	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080075	Neu-Laxova syndrome 2	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080076	Neu-Laxova syndrome 1	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080079	nonsyndromic congenital nail disorder 1 Aliases: nonsyndromic congenital nail disorder 10 twenty-nail dystrophy	FZD6	8323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080082	nonsyndromic congenital nail disorder 4 Aliases: HYPONYCHIA CONGENITA anonychia congenita	RSPO4	343637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080086	nonsyndromic congenital nail disorder 8 Aliases: isolated toenail dystrophy	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	Stim1	20866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080090	reducing body myopathy 1A	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	Des Ldb3	13346 24131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	Cryab	12955	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3	11155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	Zasp52	36740	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080096	myofibrillar myopathy 5 Aliases: filaminopathy	Flnc	68794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080096	myofibrillar myopathy 5 Aliases: filaminopathy	FLNC	2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	Cntn1	12805	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080105	microcephaly and chorioretinopathy 1	TUBGCP6	85378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080107	microcephaly and chorioretinopathy 3	TUBGCP4	27229	Homo sapiens (human)	Alliance of Genome Resources

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