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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 **4326 - 4350** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110816	hereditary spastic paraplegia 7 Aliases: SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7	SPG7	6687	Homo sapiens (human)	Alliance of Genome Resources
DOID:10316	pneumoconiosis	CAT HLA-DQB1	3119 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070140	autosomal recessive cutis laxa type IIC	ATP6V1E1	529	Homo sapiens (human)	Alliance of Genome Resources
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	FOXO1	2308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)	Alliance of Genome Resources
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050340	opportunistic bacterial infectious disease	NFKB1 NFKB2 SMARCA2 SMARCA4 SMARCC1 SMARCC2	4790 4791 6595 6597 6599 6601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050722	PHGDH deficiency Aliases: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110543	autosomal dominant nonsyndromic deafness 11 Aliases: DFNA11 autosomal dominant deafness 11	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111765	X-linked cardiac valvular dysplasia Aliases: CVD1 Dystrophie valvulaire associee a FLNA EDS 5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080499	ovarian dysgenesis 7	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080663	atrial standstill 2	NPPA	4878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110551	autosomal dominant nonsyndromic deafness 21 Aliases: DFNA21 autosomal dominant deafness 21	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081011	Bardet-Biedl syndrome 22	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	TMEM132E	124842	Homo sapiens (human)	Alliance of Genome Resources
DOID:12205	dengue disease Aliases: Dengue Fever breakbone fever classic dengue	CD209 F2 FCGR2A GC IFNL1	2147 2212 2638 282618 30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources

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