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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4526 - 4550** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcfc1	15161	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	Hccs	15159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	CTSK	1513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070567	spermatogenic failure 68 Aliases: SPGF68	C2CD6	151254	Homo sapiens (human)	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	1509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	CKAP2L	150468	Homo sapiens (human)	Alliance of Genome Resources
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	MEI1	150365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111938	immunodeficiency 24 Aliases: IMD24 SCID due to CTPS1 deficiency severe combined immunodeficiency due to CTPS1 deficiency	CTPS1	1503	Homo sapiens (human)	Alliance of Genome Resources
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	CTNND2 DRD2 GAD1 GDNF HTR1A MANEA SLC6A4	1501 1813 2571 2668 3350 6532 79694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080465	developmental and epileptic encephalopathy 30 Aliases: DEE30 early infantile epileptic encephalopathy 30	SIK1	150094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA	150 4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:302	substance abuse	ADRA2A DRD4 HTR1A HTR1B NRG1 SLC6A4	150 1815 3084 3350 3351 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	BRCA2 CTNNB1 GPC3 IGF1R IGF2R REST SIX1	1499 2719 3480 3482 5978 6495 675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	APC BRCA2 CTNNB1 ELP1 GPR161 PTCH2 TSC2	1499 23432 324 675 7249 8518 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:633	myositis Aliases: Inflammatory disorder of muscle	H2-K1	14972	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	CTNS	1497	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060864	patterned macular dystrophy 2 Aliases: MDPT2 butterfly-shaped pigmentary maculary dystrophy 2	CTNNA1	1495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	Gk	14933	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080846	latent autoimmune diabetes in adults Aliases: LADA type 1.5 diabetes	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110751	type 1 diabetes mellitus 12 Aliases: IDDM12 Insulin-Dependent Diabetes Mellitus 12	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources

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