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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 **13251 - 13275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	BSCL2 PCYT1A	26580 5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:14227	azoospermia	BSCL2 CDC34 CDC42BPA CDC42BPB CDC42BPG ISYNA1 NDST1 NDST2 NDST3 NDST4 PTPRD PTPRF PTPRS RBBP4 SCAPER SNRPA1 UBE2R2	26580 3340 49855 51477 54926 55561 5789 5792 5802 5928 64579 6627 8476 8509 9348 9578 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112045	non-syndromic X-linked intellectual disability 93 Aliases: MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly	BRWD3	254065	Homo sapiens (human)	Alliance of Genome Resources
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	BRWD1 CFAP74 DNAH5 DNAH7 ODAD3 PCSK5 SLIT2 SPEF2 TTLL1	115948 1767 25809 5125 54014 56171 79925 85452 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	BRINP3 CD40LG CD80 DSPP IL15 IL16 IL17A IL19 IL21 IL24 IL6 IL7	11009 1834 29949 339479 3569 3574 3600 3603 3605 59067 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	BRINP3 CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL2 IL6 POSTN PPIA	10631 1075 1277 339479 3558 3569 3586 5478 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:12679	nephrocalcinosis	BRD4	23476	Homo sapiens (human)	Alliance of Genome Resources
DOID:4890	juvenile myoclonic epilepsy	BRD2	6046	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:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:11994	atrophy of testis	BRCA2	675	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: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: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: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:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	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:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	BPT1	850645	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:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	BPT1 NPP1 NPP2	850391 850645 856699	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: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: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: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

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