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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 **11476 - 11500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080006	bone development disease	CSF1R FLNB LRP4 NPR2 TNFRSF11A	1436 2317 4038 4882 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	LCAT	3931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	UQCRFS1	7386	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081011	Bardet-Biedl syndrome 22	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)	Alliance of Genome Resources
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ERCC5 ERCC6	2073 2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	CD44 CDH1 CTNNA1 CTNNB1 ERBB2 FASLG STAT5A	1495 1499 2064 356 6776 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	ABCB1 CD86 TNF TSLP	5243 7124 85480 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070351	spinal muscular atrophy with lower extremity predominant 1 Aliases: spinal muscular atrophy with lower extremity predominance 1	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BPTF FGFR2 IL6	2186 2263 3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	CCN2 MBL2	1490 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:3213	demyelinating disease Aliases: demyelinating disorder	CCR2 CD80 CXCR2 ENTPD1 KLK6 MBP MYC NEFL PLP1 PTGS2 TUBB4A	10382 3579 4155 4609 4747 5354 5653 5743 729230 941 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060253	scapuloperoneal myopathy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	CCT2 CRB1 GUCY2D MYO7A PALS1 PRPH2 RDH11 RDH14	10576 23418 3000 4647 51109 57665 5961 64398	Homo sapiens (human)	Alliance of Genome Resources
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	WNT7B	7477	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:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	EFEMP2	30008	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

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