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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 **12726 - 12750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	Cybb	13058	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	Cybb Ifng Tlr5 Tlr9	13058 15978 53791 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	Cux1 Pias3 Trp53	13047 22059 229615	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	Ctsk	13038	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	Ctsd	13033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	Ctsc	13032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	Ctsb Glud1	13030 14661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:2913	acute pancreatitis	CCK CD163 CX3CL1 F3 F7 IL10 KIT LEP MTNR1B REG3G SERPINA1 TREM1	130120 2152 2155 3586 3815 3952 4544 5265 54210 6376 885 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110023	age related macular degeneration 11 Aliases: ARMD11	Cst3	13010	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070027	CST3-related cerebral amyloid angiopathy Aliases: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant	Cst3	13010	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1389	polyneuropathy	Cst3 Fcgr4 H2-Eb1 Sod2 Sod3	13010 14969 20656 20657 246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	COL11A1 EPHA10 GREB1L GRHL2 MAP1B PI4KB THOC1 TRRAP USP48	1301 284656 4131 5298 79977 80000 8295 84196 9984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	COL10A1	1300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070304	multiple epiphyseal dysplasia 3 Aliases: EDM3 multiple epiphyseal dysplasia 3 with or without myopathy	COL9A3	1299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	Csf3r	12986	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:0090120	hereditary neutrophilia	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources

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