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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 **9651 - 9675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	TLR7	51284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:7475	diverticulitis	SLC6A4	6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:12549	hepatitis A Aliases: Viral hepatitis, type A	ACE CTLA4 PDCD1 TNF XRCC1	1493 1636 5133 7124 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	ITGB6	3694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112018	non-syndromic X-linked intellectual disability 104 Aliases: MRX104 X-linked mental retardation 104	FRMPD4	9758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	GABBR2	9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110699	hypotrichosis 2 Aliases: Htss1 Hypt2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:9631	Pelger-Huet anomaly	LBR	3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GALT	2592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	CXCR4 DLL4 NOTCH4	4855 54567 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	BMP5	653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060754	familial temporal lobe epilepsy 8 Aliases: ETL8	GAL	51083	Homo sapiens (human)	Alliance of Genome Resources
DOID:11624	penile benign neoplasm Aliases: Penile tumor neoplasm of penis	PTGES TOP2A	7153 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060793	hypomyelinating leukodystrophy 5 Aliases: HLD5 hypomyelination-congenital cataract syndrome	HYCC1 HYCC2	285172 84668	Homo sapiens (human)	Alliance of Genome Resources
DOID:863	nervous system disease	ATP1A1 ATP1A2 KIF1B KIF1C	10749 23095 476 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CLEC3B NFIX	4784 7123	Homo sapiens (human)	Alliance of Genome Resources

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