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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 **6926 - 6950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112187	thyroid dyshormonogenesis 3 Aliases: TDH3 genetic defect in thyroid hormonogenesis 3	Tg	21819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112206	developmental and epileptic encephalopathy 70 Aliases: DEE70 early infantile epileptic encephalopathy 70	Phactr1	218194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	Thbd	21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	Thpo	21832	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	Clptm1l	218335	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	Skic3	218343	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	Timp1 Timp3	21857 21859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	Timp3	21859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BPTF FGFR2 IL6	2186 2263 3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080931	primary localized cutaneous amyloidosis 2	Il31ra	218624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2835	polycythemia due to hypoxia	Pxk	218699	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111098	Fanconi anemia complementation group B Aliases: FACB FANCB Fanconi pancytopenia type 2	FANCB	2187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	Atp6v0a2	21871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	Atp6v0a2	21871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	Apob Tjp1	21872 238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	Tjp2	21873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111086	Fanconi anemia complementation group G Aliases: FANCG	FANCG	2189	Homo sapiens (human)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	21898 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4677	keratitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	Tlr4 Tlr9	21898 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060000	infective endocarditis	Tlr6	21899	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	Tspan7	21912	Mus musculus (house mouse)	Alliance of Genome Resources

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