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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1551 - 1575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Adipoq Gck Ins1 Ins2 Kcnj11 Lep Lepr Pfkfb1 Rbp4	103988 11450 16333 16334 16514 16846 16847 18639 19662	Mus musculus (house mouse)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	117592	Mus musculus (house mouse)
DOID:0070450	mitochondrial DNA depletion syndrome 19	Slc25a10	27376	Mus musculus (house mouse)
DOID:1324	lung cancer	Braf Comt Hs3st2 Idh2 Mbd4 Myc Pik3ca	109880 12846 17193 17869 18706 195646 269951	Mus musculus (house mouse)
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6pd	100198	Mus musculus (house mouse)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	Adipoq Cs Nr1d1 Ppargc1a Ugt1a1	11450 12974 19017 217166 394436	Mus musculus (house mouse)
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	Wdfy3	72145	Mus musculus (house mouse)
DOID:0080005	bone remodeling disease	Idh2	269951	Mus musculus (house mouse)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	215494	Mus musculus (house mouse)
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	Adipoq Igf2 Tnf	11450 16002 21926	Mus musculus (house mouse)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Adipoq Akr1b1 Akt1 Fuca1 Gapdh Ins1 Ins2 Pdx1 Pgf Ppargc1a Rbp4 Tlr4 Tnf	11450 11651 11677 14433 16333 16334 18609 18654 19017 19662 21898 21926 71665	Mus musculus (house mouse)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	Ugt1a1	394436	Mus musculus (house mouse)
DOID:0050830	peripheral artery disease	Adipoq Npy1r	11450 18166	Mus musculus (house mouse)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	16535	Mus musculus (house mouse)
DOID:11476	osteoporosis	Igf2 Lep Lepr Lrp5 Mapk14 Myc Pcna	16002 16846 16847 16973 17869 18538 26416	Mus musculus (house mouse)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	Prkag2 Prkag3 Sarm1 Tpi1	108099 21991 237868 241113	Mus musculus (house mouse)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Tnf	14466 21926	Mus musculus (house mouse)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	Chst3	53374	Mus musculus (house mouse)
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	Mutyh	70603	Mus musculus (house mouse)
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)
DOID:3021	acute kidney failure	Bad Tlr4	12015 21898	Mus musculus (house mouse)
DOID:5572	Beckwith-Wiedemann syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	Ins2	16334	Mus musculus (house mouse)
DOID:2571	Langerhans-cell histiocytosis Aliases: Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen	Braf	109880	Mus musculus (house mouse)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Adprs	100206	Mus musculus (house mouse)

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