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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 **2676 - 2700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	BNI1	855450	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BNI1	855450	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060690	autosomal dominant auditory neuropathy 1 Aliases: AUNA1 NSDAN nonsyndromic dominant auditory neuropathy	BNI1	855450	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112224	chondrodysplasia with joint dislocations gPAPP type Aliases: gPAPP deficiency	BPNT2	54928	Homo sapiens (human)	Alliance of Genome Resources
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	BPT1 BUD2 CTS2 EMI2 GLK1 GLR1 HMG1 HMG2 HXK1 HXK2 OGG1 VVS1	850317 850614 850645 851171 851977 852128 852543 852639 853770 854900 854942 856014	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	BPT1 DGA1 ECM38 EMI2 GLK1 HFA1 HXK1 HXK2 KAR2 LAG1 PHO8 POX1	850317 850614 850645 851006 852092 852128 852639 852667 853418 854419 855247 856386	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	BPT1 ENO1 ENO2 ERR1 ERR2 ERR3 KAR2 KEX2	850645 853169 853418 854575 855373 855483 855848 856579	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	BPT1 GIT1 GLO1 GLR1 HMG1 HMG2 IZH1 LRO1 NPP1 NPP2 STE6 YLR001C	850391 850462 850645 850687 851171 852102 853671 854900 855009 855742 856014 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	BPT1 GPH1 NFT1 STE6 YOL075C ZWF1	850645 853671 853978 854080 855480 856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	BPT1 NPP1 NPP2	850391 850645 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	BPT1 NPP1 NPP2	850391 850645 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	BPT1 NSP1 PEP4 PHO8 STE6	850645 852092 853409 853671 855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	BPT1	850645	Saccharomyces cerevisiae S288C	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:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	BRCA1 BRCA2 PALB2 RAD51C	5889 672 675 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	BRCA1 CAT CYP1B1 FGFR3 MUC1 MXI1 TNF	1545 2261 4582 4601 672 7124 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	BRCA2 FANCD2 FANCG FANCM FLT3LG IFNG IL10 PRF1 RAD51C TNF	2177 2189 2323 3458 3586 5551 57697 5889 675 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:5750	endometrial serous adenocarcinoma Aliases: uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma	BRCA2 POLE	5426 675	Homo sapiens (human)	Alliance of Genome Resources
DOID:11994	atrophy of testis	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	BRD2 ELN	2006 6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:4890	juvenile myoclonic epilepsy	BRD2	6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:12679	nephrocalcinosis	BRD4	23476	Homo sapiens (human)	Alliance of Genome Resources

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