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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 **5751 - 5775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060558	lethal congenital contracture syndrome	Adgrg6 Cntnap1 Dnm2 Gldn	13430 215798 235379 53321	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080697	Opitz GBBB syndrome Aliases: Opitz G/BBB Syndrome Opitz GBBB syndrome type I	Trim67	330863	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5113	nutritional deficiency disease	Sod1	20655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	Ap3b1	11774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:869	cholesteatoma	Ereg Hgf Il1a Mmp2 Mmp9 Tlr2 Tlr4 Vegfa	13874 15234 16175 17390 17395 21898 22339 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	Sgcb	24051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	Btk Calr Cd40 Cd79b Myc	12229 12317 15985 17869 21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	Atrx Bsg Chrna5 Chrnb4 Clptm1l Csf1r Ctnnb1 Ddr2 Fap Fgf9 Fgfr4 Frzb Gpx1 Idh1 Idh2 Lamc2 Ptch1 Ptpn13 Ptprj Sftpb Slc7a5 Src	108015 110835 12215 12387 12978 14089 14180 14186 14775 15926 16782 18214 19206 19249 19271 20378 20388 20539 20779 218335 22589 269951	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8469	influenza Aliases: Influenza with other manifestations flu influenza with non-respiratory manifestation	Cd274	60533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	Met	17295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	Lgi1	56839	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	Sbf1	77980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0040094	autoimmune glomerulonephritis	Fgl2	14190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	Gp1ba	14723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	Grb10 Igf2	14783 16002	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050697	chorioamnionitis	Ager Fas Lta Mbl2 Mmp9 Tgfb1 Tnf Trem1	11596 14102 16992 17195 17395 21803 21926 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	Ace Ifnl2	11421 330496	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	Fcgr2b Fcgr3	14130 14131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080579	3-Methylcrotonyl-CoA carboxylase 1 deficiency	Mccc1	72039	Mus musculus (house mouse)	Alliance of Genome Resources

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