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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 **4826 - 4850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	Grhl2	252973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	Cpn1	93721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10b Kcnh2	16511 380959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	Dnm1l	74006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	Ccl11 Ccl7	20292 20306	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	24070	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:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	Lrpprc	72416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	Hk2 Igf2 Ins1 Ins2	15277 16002 16333 16334	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	Actb Ren1	11461 19701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Pygl	110095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	Crb1	170788	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:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	Mtss1 Mtss2	211401 244654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	Ager Apoc3 C3 Ccl2 Cd40lg Cfb Cfh Cfhr4 Col1a1 Csf1 Ctla4 Egf Fcgr2b Fcgr3 H2-Aa H2-Eb1 Ifng Il1rn Itgam Klkb1 Mbl2 Mpo Nr3c1 Pdcd1 Tlr9 Tnf Tnfrsf11b Tnfrsf1a Tnfrsf1b Vcam1	11596 11814 12266 12477 12628 12842 12977 13645 14130 14131 14815 14960 14962 14969 15978 16181 16409 16621 17195 17523 18383 18566 20296 214403 21926 21937 21938 21947 22329 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12986	leukostasis	Ace Serpinf1	11421 20317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050155	sensory system disease	Tbl1x	21372	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:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	Il13 Il17a Nr3c1 Stat6	14815 16163 16171 20852	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	16795	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:809	cocaine abuse	Cd40lg Chrna5 Chrna6 Chrnb4 Gria1 Htr1a Htr2a Htr2c Npy1r Nr3c1 Slc18a1 Slc18a2 Slc6a4	108015 110835 110877 11440 14799 14815 15550 15558 15560 15567 18166 214084 21947	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	Sema3a	20346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	Kl	16591	Mus musculus (house mouse)	Alliance of Genome Resources

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