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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 **1051 - 1075** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080054	achondrogenesis type IA Aliases: achondrogenesis Houston-Harris type	TRIP11	9321	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080058	autosomal recessive spinocerebellar ataxia 14 Aliases: SCAR14	SPTBN2	6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080061	autosomal recessive spinocerebellar ataxia 2 Aliases: SCAR2	PMPCA	23203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080065	autosomal recessive spinocerebellar ataxia 19 Aliases: Lichtenstein-Knorr syndrome SCAR19	SLC9A1	6548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	SNX13	23161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	NUP35 PTEN SPRY2	10253 129401 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080074	neural tube defect	CBS CRIPTO FUZ LRP6 MTHFD1 MTHFD1L TBXT	25902 4040 4522 6862 6997 80199 875	Homo sapiens (human)	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	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 LDB3	11155 1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	CRYAA CRYAB	1409 1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources

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