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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 **8726 - 8750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:11664	nephrosclerosis Aliases: renal sclerosis	ADRB1 PTGDS	153 5730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:823	periapical periodontitis Aliases: Apical periodontitis	CCL2 CCL7 CCR2 CIITA CXCR2 IL17A TNFRSF11B	3579 3605 4261 4982 6347 6354 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	AGER APOC3 C3 CCL2 CD40LG CFB CFH COL1A1 CSF1 CTLA4 EGF FCGR2A HLA-DQA1 HLA-DRB1 IFNG IL1RN ITGAM KLKB1 MBL2 MPO NR3C1 PDCD1 SNRPE TLR9 TNF TNFRSF11B TNFRSF1A TNFRSF1B VCAM1	1277 1435 1493 177 1950 2212 2908 3075 3117 3123 345 3458 3557 3684 3818 4153 4353 4982 5133 54106 629 6347 6635 7124 7132 7133 718 7412 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13258	typhoid fever Aliases: Typhoid	CFTR HLA-DQB1 HLA-DRB1 LTA TNF	1080 3119 3123 4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110356	retinitis pigmentosa 18 Aliases: RP18	PRPF3	9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110050	Alzheimer's disease 18 Aliases: AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	MTOR	2475	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080868	primary ovarian insufficiency 11	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH5A1	7915	Homo sapiens (human)	Alliance of Genome Resources
DOID:8469	influenza Aliases: Influenza with other manifestations flu influenza with non-respiratory manifestation	CD274	29126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	VPS37A	137492	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081152	common variable immunodeficiency 10	NFKB2	4791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111841	Shukla-Vernon syndrome Aliases: SHUVER	BCORL1	63035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	EDA EDAR	10913 1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:13576	twin-to-twin transfusion syndrome Aliases: Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin Twin to twin transfusion Twin-to-twin blood transfer	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	FOXH1	8928	Homo sapiens (human)	Alliance of Genome Resources
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	PLP1	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090102	autosomal dominant macrothrombocytopenia TUBB1-related	TUBB1	81027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080486	peroxisome biogenesis disorder 12A Aliases: peroxisome biogenesis disorder 12A (Zellweger)	PEX19	5824	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources

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