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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 **6601 - 6625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	SLC6A17	388662	Homo sapiens (human)	Alliance of Genome Resources
DOID:112	esophageal varix Aliases: Bleeding esophageal varices Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC esophageal varices without bleeding esophageal varices without mention of bleeding	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	DVL1	1855	Homo sapiens (human)	Alliance of Genome Resources
DOID:161	keratosis	CAT MPO	4353 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	BMI1 EZH2 SALL1 SUZ12 TEK VEGFA	2146 23512 6299 648 7010 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACE COL1A2 GALNT1 HTR2B LRP5 MMP2 MMP9 TNF	1278 1636 2589 3357 4041 4313 4318 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	BMP1	649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	VPS37A	137492	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	ATM CHD4 MALT1 PAFAH1B2 RELA	10892 1108 472 5049 5970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	POLH	5429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080931	primary localized cutaneous amyloidosis 2	IL31RA	133396	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
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	FRAS1 FREM1 FREM2 GRIP1	158326 23426 341640 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	SCARF2	91179	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Aliases: CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD	CDK13	8621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	VEGFC	7424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110895	inflammatory bowel disease 14 Aliases: IBD14	IRF5	3663	Homo sapiens (human)	Alliance of Genome Resources
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	TRIOBP	11078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources

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