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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 **3551 - 3575** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1	3251 353	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ABCG2 APOE HAVCR1 INS LCN2 SLC22A2 SLC2A9 STAT3	26762 348 3630 3934 56606 6582 6774 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	ARID1A BICRAL SMARCC1 SMARCC2 SMARCD1 SMARCD2	23506 6599 6601 6602 6603 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	BAZ1B BUD23 CLIP2 EIF4H ELN FZD3 FZD9 GTF2I LIMK2 LOX NOP2 NSUN5 SRC	114049 2006 2969 3985 4015 4839 55695 6714 7458 7461 7976 8326 9031	Homo sapiens (human)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	Homo sapiens (human)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:1932	Angelman syndrome Aliases: happy puppet syndrome puppetlike syndrome	RNF4 UBE3A	6047 7337	Homo sapiens (human)	Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	CREBBP EP300	1387 2033	Homo sapiens (human)	Alliance of Genome Resources
DOID:1934	dysostosis	EFNB1 KIF3A	11127 1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	BBS2 BBS9 CEP131 SCAPER TBC1D32 TMEM67 TTC8	123016 221322 22994 27241 49855 583 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1936	atherosclerosis	ADD1 ADIPOQ AGER AGT APOA1 APOE CASR CD36 CD40 CD40LG CLU COL4A2 CPE CSF1 F2 FAS FCGR2A GPX3 GRN HMGB1 HNRNPC HP HPR HSPA1A ITGAM LDLR LPA MMP1 MMP2 NGF NGFR NONO NOS3 NPPB NR1H3 PARP15 PDGFD PECAM1 PLA2G7 PLAU PLTP PON1 PON3 PTGES3 PTGIS RBP4 SELP SIRT1 STAT3 STAU1 UBR1 VIM WIZ	10062 10728 118 1191 1284 1363 1435 165631 177 183 197131 2147 2212 23411 2878 2896 3146 3183 3240 3250 3303 335 348 355 3684 3949 4018 4312 4313 4803 4804 4841 4846 4879 5175 5328 5360 5444 5446 5740 58525 5950 6403 6774 6780 7431 7941 80310 846 9370 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:1962	fallopian tube disease	CCR5	1234	Homo sapiens (human)	Alliance of Genome Resources
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	AMHR2 FLT1 KIT MED12 TERT XRN2	22803 2321 269 3815 7015 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ADD1 ADD2 ADD3 AGAP1 AGAP5 AGAP9	116987 118 119 120 642517 729092	Homo sapiens (human)	Alliance of Genome Resources
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	FOS PIK3CA PIK3CB	2353 5290 5291	Homo sapiens (human)	Alliance of Genome Resources
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	CHD4 CXCR4 CYP24A1 GPX3 IL6 MAP3K1 MAPK14 MRE11 NBN XRCC5	1108 1432 1591 2878 3569 4214 4361 4683 7520 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	EEF2 KDM6A SLC7A5 STAT3 STAT4 STAT6	1938 6774 6775 6778 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	TIMP1 TIMP3	7076 7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ABCC8 ADIPOQ ADM AGT AGTR1 CCL2 GCK GFPT1 GLUD1 HP IL6 INS IREB2 KCNJ11 LEP LEPR LIPC LTA NPY5R PFKFB1 PRKCQ PTEN PTPN1 PTPRF RBP4 RPS6KB1 SCD	133 183 185 2645 2673 2746 3240 3569 3630 3658 3767 3952 3953 3990 4049 4889 5207 5588 5728 5770 5792 5950 6198 6319 6347 6833 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	ADRA2A BDNF CNR2 CREB1 CTNND2 CYP3A5 DRD2 ELK1 GAD1 GDNF HCN1 HDAC2 HTR1A HTR1B HTR2C HTR7 KDM3B L1CAM LEF1 MANEA MC4R NCOR1 NODAL NPY1R NTRK2 POMC SCN1A SCN2A SCN3A SCN9A SLC18A2 SLC6A4 TSC2	1269 1385 150 1501 1577 1813 2002 2571 2668 3066 3350 3351 3358 3363 348980 3897 4160 4838 4886 4915 51176 51780 5443 627 6323 6326 6328 6335 6532 6571 7249 79694 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:2033	communication disorder	COL6A3 DDB1	1293 1642	Homo sapiens (human)	Alliance of Genome Resources

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