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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 **8126 - 8150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	TRAF3IP1	26146	Homo sapiens (human)	Alliance of Genome Resources
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	FAS FASLG HLA-DRB1 SOD2	3123 355 356 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	ENTPD1	953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111907	thrombophilia due to thrombin defect Aliases: THPH1 prothrombin-related thrombophilia thrombophilia due to factor 2 defect	F13A1 F2 HABP2	2147 2162 3026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080787	proximal symphalangism 1	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050754	ataxia with oculomotor apraxia type 1	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:12119	hemosiderosis Aliases: haemosiderosis	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	FGA FGB FGG	2243 2244 2266	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110573	autosomal dominant nonsyndromic deafness 4A Aliases: DFNA4A autosomal dominant deafness 4A	CEACAM16 MYH14	388551 79784	Homo sapiens (human)	Alliance of Genome Resources
DOID:13452	scleritis	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080527	bronchiectasis 2	SCNN1A	6337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081101	nonautoimmune hyperthyroidism Aliases: Congenital nonautoimmune hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050871	fibroma	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080385	nephrotic syndrome type 11	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111854	primary ciliary dyskinesia 39 Aliases: CILD39 primary ciliary dyskinesia 39 with or without situs inversus	LRRC56	115399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080615	nephroma Aliases: benign nephroma	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	DHX37	57647	Homo sapiens (human)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ICAM1 IL6 KEAP1 MTOR	2475 3383 3569 9817	Homo sapiens (human)	Alliance of Genome Resources

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