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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 **5226 - 5250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12720	cerebral atherosclerosis	Kalrn	545156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	Daam2 Lama5	16776 76441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060212	amyotrophic lateral sclerosis type 21 Aliases: ALS21	Matr3	17184	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1781	thyroid cancer Aliases: Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm	Cdh16	12556	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	Cog6	67542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080471	developmental and epileptic encephalopathy 92	Gabrb2	14401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	Ehmt1	77683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	Ecm1	13601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060903	thrombosis	Ace2 Apoh C5ar1 Cd40lg F11 F2 F3 F5 Fcgr2b Fcgr3 Fgb Hrg Itga2 Itgam Mmp1a Mmp9 P2ry12 Pik3cb Proc Serpinc1 Vtn	109821 110135 11818 11905 12273 14061 14066 14067 14130 14131 16398 16409 17395 19123 21947 22370 70008 70839 74769 83995 94175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	Adipoq Ager Btnl2 Ccr5 Cd40 Cd40lg Clu Flt1 Hmgb1 Hp Hspa1a Hspa1l Mbl2 Mmp9 Selp Timp1 Tlr4 Tnf Vegfa	11450 11596 12759 12774 14254 15289 15439 15482 17195 17395 193740 20344 21857 21898 21926 21939 21947 22339 547431	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	Abcg2 Ezh2 Mrtfa Sncb	104069 14056 223701 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	Ndufaf2	75597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	Adamts2	216725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation Aliases: FPHH MUH melanosis universalis hereditaria	Kitl	17311	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060811	syndromic X-linked intellectual disability Turner type Aliases: Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type	Huwe1	59026	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	Gdf5 Ihh	14563 16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060956	dystonia 37, early-onset with striatal lesions	Nup54	269113	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4769	pleuropulmonary blastoma	Fgf9	14180	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081268	pulmonary venoocclusive disease 1	Bmpr2	12168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Psap Tnf	14466 19156 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	Dkc1 Trp53	22059 245474	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080931	primary localized cutaneous amyloidosis 2	Il31ra	218624	Mus musculus (house mouse)	Alliance of Genome Resources

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