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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 **5126 - 5150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	VhaAC45	35944	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111990	immunodeficiency 30 Aliases: IMD30 MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	IL12RB1	3594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111950	immunodeficiency 29 Aliases: IL12B deficiency IMD29 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency immunodeficiency 29, mycobacteriosis	IL12B	3593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060859	salmonellosis Aliases: Salmonella infection	IL12B	3593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	AQP2	359	Homo sapiens (human)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	AQP2 SERPINA7	359 6906	Homo sapiens (human)	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Pgi	35886	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:440	neuromuscular disease	Pgi	35886	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110909	inflammatory bowel disease 25 Aliases: IBD25 early onset autosomal recessive inflammatory bowel disease 25	IL10RB	3588	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110899	inflammatory bowel disease 28 Aliases: IBD28 early onset autosomal recessive inflammatory bowel disease 28	IL10RA	3587	Homo sapiens (human)	Alliance of Genome Resources
DOID:8564	lip cancer Aliases: malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip malignant neoplasm of lip, external malignant neoplasm of lip, inner aspect malignant neoplasm of lip, vermilion border malignant neoplasm of lower lip, buccal aspect malignant neoplasm of lower lip, inner aspect malignant neoplasm of lower lip, mucosa malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of vermilion border of lip malignant tumor of commissure of lip malignant tumor of labial mucosa malignant tumor of lip malignant tumor of lower labial mucosa malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:1417	choroid disease	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:118	pericardial effusion	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:7997	thyrotoxicosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070344	ocular tuberculosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:1754	mitral valve stenosis Aliases: Mitral stenosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:12732	intermediate uveitis Aliases: chronic cyclitis peripheral uveoretinitis	CCR2 IL10 TNF	3586 7124 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	BTK CD79B IL10 MYD88	3586 4615 695 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080016	spina bifida	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070365	nevoid basal cell carcinoma syndrome 1 Aliases: basal cell nevus syndrome 1	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5522	basaloid squamous cell carcinoma Aliases: Basaloid carcinoma	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10460	nasopharyngitis Aliases: chronic nasopharyngitis	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	fz2 ptc	35851 40090	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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