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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5701 - 5725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:6846	familial melanoma	Braf	109880	Mus musculus (house mouse)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	13481	Mus musculus (house mouse)
DOID:114	heart disease	Gpi1 Gsk3b Kat2a Kat2b Ppargc1a	14534 14751 18519 19017 56637	Mus musculus (house mouse)
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	Kl	16591	Mus musculus (house mouse)
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	Braf	109880	Mus musculus (house mouse)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	14629	Mus musculus (house mouse)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4galt1	14595	Mus musculus (house mouse)
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	Phka2	110094	Mus musculus (house mouse)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	117592	Mus musculus (house mouse)
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	Tnf	21926	Mus musculus (house mouse)
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	Wdfy3	72145	Mus musculus (house mouse)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Adipoq Asah2 Braf Got1 Pomt1 Tnf	109880 11450 14718 21926 54447 99011	Mus musculus (house mouse)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Chi3l1 Comt Lep Lepr Ogg1 Pgf Rbp4 Tlr4 Tnf	12654 12846 16846 16847 18294 18654 19662 21898 21926	Mus musculus (house mouse)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:869	cholesteatoma	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6pd2 G6pdx Gpi1 Hk1	14380 14381 14751 15275	Mus musculus (house mouse)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	Tnf	21926	Mus musculus (house mouse)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Pofut1 Poglut1	140484 224143	Mus musculus (house mouse)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Tnf	21926	Mus musculus (house mouse)
DOID:1024	leprosy	Tlr1 Tlr2 Tnf	21897 21926 24088	Mus musculus (house mouse)
DOID:0081001	Cowden syndrome 5	Pik3ca	18706	Mus musculus (house mouse)
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	Prkag2	108099	Mus musculus (house mouse)
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	Lrp5	16973	Mus musculus (house mouse)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	Trp53	22059	Mus musculus (house mouse)

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