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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 **15926 - 15950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	Atp7a Efemp1 Efemp2 Fbln5 Ltbp1 Ltbp4	108075 11977 216616 23876 268977 58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110013	advanced sleep phase syndrome 3 Aliases: FASPS3 familial advanced sleep phase syndrome 3	PER3	8863	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110892	inflammatory bowel disease 1 Aliases: IBD1	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050944	spastic ataxia 5	Afg3l2	69597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	R04B3.2	180550	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112074	nuclear type mitochondrial complex I deficiency 1 Aliases: MC1DN1	Ndufs4	17993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	H2-Ab1 H2-Eb1	14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ADRB3 AFP AKT2 APC APEX1 AR ATM ATR BAD BRCA2 BST2 CD59 CD9 CDC25B CDH1 CHI3L1 COMT CYP19A1 CYP1A1 CYP1A2 EFEMP2 EGF ERRFI1 IL10 JAK1 JUP LTA MRE11 MSH6 NOTCH1 NOTCH4 PGM1 PIK3CB PIK3CD POLE PTEN RNF43 RUNX1 SHBG SPAG9 SULT1E1 TFF1 TNFRSF1A TNFRSF1B TP53 TYMP UGT1A1	1116 1312 1543 1544 155 1588 174 1890 1950 208 2956 30008 324 328 3586 367 3716 3728 4049 4361 472 4851 4855 5236 5291 5293 54206 5426 545 54658 54894 572 5728 6462 675 6783 684 7031 7132 7133 7157 861 9043 928 966 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	N	31293	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	CIT1 CIT2 CIT3 CTS2 GIT1 GLC7 HSF1 MDH1 MDH2 MDH3 PEP4 VVS1 YLR001C	850361 850462 850687 851481 851977 852543 852806 853777 853994 855732 855949 856107 856870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8618	oral cavity cancer Aliases: malignant neoplasm of floor of mouth	Chrnb4 Cyp1a1 Sod3	24296 25103 25352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	C3 Cxcr4 Piga	24232 363464 60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:820	myocarditis Aliases: Myocardial inflammation	acn-1 pat-3	175504 180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	agtr1.L grin2a.L nog.L nog.S npy2r.S	100127346 108704141 373646 378693 398763	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081164	dilated cardiomyopathy 3B	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	ACTR2 AGER AKAP12 ANTXR1 BMI1 BRCA1 BRCA2 BRD7 CA12 CALU CAT CD59 CHI3L1 CSF1R CXCR4 EFNB2 ERCC6 EZH2 FUBP1 GPX2 GPX3 IL2 IL6 ITGB3 MAPK14 MBD4 MSH6 MYD88 NCOA2 NF1 PHF6 PIK3CA PTPRB RAC1 SELENOP SMAD4 SMARCC1 SRC STAT3 STRAP TP53 XPO1 XRCC1	10097 10499 1116 11171 1432 1436 177 1948 2074 2146 2877 2878 29117 2956 3558 3569 3690 4089 4615 4763 5290 5787 5879 6414 648 6599 6714 672 675 6774 7157 7514 7515 771 7852 813 84168 84295 847 8880 8930 9590 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	Met	24553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	Abca1 Abcc6 Acat2 Ace Adipoq Adrb3 Ager Agtr1a Agtr1b Agxt2 Ahsg Apob Apoc3 Arhgap31 Bche Brinp3 Btnl2 Ccl2 Ccr5 Cd40lg Cdh5 Chi3l1 Clcn6 Clu Cpe Cst3 Cubn Dab2ip Ddah1 Ece1 Eng Ephx2 Esr1 Esr2 F2 F7 Fcgr2b Fcgr3 Fcgr4 Fgb Fto Gck Gp6 Gpx1 Gsr Hgf Hmgcr Hp Hsd11b1 Hspd1 Il10 Il15 Il1rl1 Irs1 Kalrn Kl Lepr Lipc Lipg Lox Lpl Lta Lum Map3k7 Mlxipl Mmp12 Mmp1a Mmp9 Nampt Ngf Ngfr Nos3 Nr3c1 Ogg1 Olr1 Pappa Pecam1 Pf4 Phactr1 Pla2g7 Pnpla3 Pon1 Pon2 Ppara Pparg Ptprd Rbp4 Sele Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinf2 Slc2a4 Sod1 Sod3 Spp1 Srebf1 Srebf2 Tek Thbd Tlr4 Tnf Tnfrsf11b Tnfrsf1a Tnni3 Trp53 Ttn Vegfa Vim Vtn Wrn	103988 108078 110135 110460 11303 11421 11450 11556 11596 11607 11608 11625 116939 11814 12038 12549 12562 12654 12759 12774 12876 13010 13805 13850 13982 13983 14061 14068 14130 14131 14775 14782 14815 15234 15357 15439 15450 15483 15510 16153 16168 16367 16591 16847 16891 16948 16956 16992 17022 17082 17381 17395 18049 18053 18127 18294 18383 18491 18613 18816 18979 19013 19016 19266 19662 20296 20339 20528 20655 20657 20700 20701 20702 20703 20704 20750 20787 20788 215378 21687 218194 21824 21898 21926 21937 21947 21954 22059 22138 22339 22352 22370 22427 230857 238055 243816 246256 26372 26383 26409 268782 27226 27421 330260 545156 547431 56744 58805 59027 65969 69219 69601 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:2490	congenital nervous system abnormality Aliases: congenital neurologic anomaly	Eml1 Tuba1a	22142 68519	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	Tor1a	266606	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	Scn1b	29686	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	Necap1	67602	Mus musculus (house mouse)	Alliance of Genome Resources

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