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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 **13801 - 13825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	SLC9A3	6550	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	SLC11A1	6556	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112159	autosomal dominant nonsyndromic deafness 78 Aliases: DFNA78	SLC12A2	6558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080758	Fanconi renotubular syndrome 2	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060389	chromosome 10q23 deletion syndrome	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111686	hereditary mixed polyposis syndrome 2 Aliases: HMPS2	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	SLC18A2	6571	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	SLC18A3	6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	SLCO2A1	6578	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110978	brachydactyly type A1D Aliases: BDA1D	BMPR1B	658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081237	acromesomelic dysplasia-3 Aliases: Demirhan-type acromesomelic dysplasia	BMPR1B	658	Homo sapiens (human)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	SLC22A5	6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:1681	heart septal defect Aliases: Cardiac septal defects Congenital septal defect of heart septal defect	BMPR2 CRELD1 TBX2	659 6909 78987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081268	pulmonary venoocclusive disease 1	BMPR2	659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	SMARCA2 SMARCA4	6595 6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SMARCA2	6595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070046	Coffin-Siris syndrome 4 Aliases: CSS4 MRD16 autosomal dominant mental retardation 16	SMARCA4	6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	SMARCB1 VEGFA	6598 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080799	sinonasal undifferentiated carcinoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070045	Coffin-Siris syndrome 3 Aliases: CSS3 MRD15 autosomal dominant mental retardation 15	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070480	schwannomatosis 1 Aliases: SMARCB1-related schwannomatosis SWN1	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources

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