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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 **3676 - 3700** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
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
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	CA9 CCL5 CCR3 CCR5 CD68 CTLA4 CTNNB1 CYP27B1 DOCK8 EFTUD2 EIF2AK2 FAS FASLG HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 IFNA2 IFNAR2 IFNGR1 IL10 IL10RB IL2 IL2RB IL4 IL6 KIR3DS1 MAP4K4 MBL2 MPL MYD88 PDCD1 PLAU PLAUR PREX2 SAMHD1 TLR3 TLR9 TNF TREM1 UGT1A1 UGT1A6 XRCC1	1232 1234 1493 1499 1594 25939 3113 3115 3117 3119 3440 3455 3459 355 3558 356 3560 3565 3569 3586 3588 3813 4153 4352 4615 5133 5328 5329 54106 54210 54578 54658 5610 6352 7098 7124 7515 768 80243 81704 9343 9448 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	ABCC2 CYP2E1 HMGCR	1244 1571 3156	Homo sapiens (human)	Alliance of Genome Resources
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ADIPOQ CTLA4 DNASE1 F2 FAS HLA-DPB1 HLA-DQB1 HLA-DRB1 HRAS IL21 IL2 IL4 KIR2DL2 PDCD1 PDIA3 STAT4 TNF VEGFA ZFHX3	1493 1773 2147 2923 3115 3119 3123 3265 355 3558 3565 3803 463 5133 59067 6775 7124 7422 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	ADCYAP1R1 BAX BDNF CASP9 GRIN2A HSPA5 IL2 MDM2 NR3C1 NTRK2 OPRM1 PDIA3 WFS1	117 2903 2908 2923 3309 3558 4193 4915 4988 581 627 7466 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	EXT1 EXT2 EXTL1 EXTL3	2131 2132 2134 2137	Homo sapiens (human)	Alliance of Genome Resources
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CDC25A CDC25B SFN	2810 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources

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