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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 **4276 - 4300** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	CCN2 MBL2	1490 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:571	median neuropathy	EGFR ERBB2 ERBB3 ERBB4 MT1E MT1H MT2A NRG1	1956 2064 2065 2066 3084 4493 4496 4502	Homo sapiens (human)	Alliance of Genome Resources
DOID:5723	optic atrophy Aliases: atrophy of optic disc	FDXR MCAT MECR OPA1 SSBP1 WFS1	2232 27349 4976 51102 6742 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)	Alliance of Genome Resources
DOID:5733	salpingitis	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:574	peripheral nervous system disease	ARTN LTC4S TLR3	4056 7098 9048	Homo sapiens (human)	Alliance of Genome Resources
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	SRC	6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	BSG TP53	682 7157	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:576	proteinuria	ACE ADD3 AGER AGTR1 ALB B2M C6 CD55 CFH CLU COL4A5 F7 HAVCR1 HIF1A ICAM1 IFNB1 IL1RN IL6 LAMB2 LEPR MGAT5 MMP2 MYH9 NCKAP5 NPHS1 NPHS2 NPNT NPPB OPTN OSGEP PLA2G7 PON1 SDC1 SERPINA1 SLC9A1 SNRPD1 SORCS1 TGFB1 TLR9 TMEM67 TRPC6 VEGFA VTN	10133 114815 1191 120 1287 1604 1636 177 185 213 2155 255743 26762 3075 3091 3383 344148 3456 3557 3569 3913 3953 4249 4313 4627 4868 4879 5265 54106 5444 55644 567 6382 6548 6632 7040 7225 729 7422 7448 7827 7941 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:5768	Nager acrofacial dysostosis Aliases: AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis	SF3B4	10262	Homo sapiens (human)	Alliance of Genome Resources
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	CYP3A5 TGFB1 TP53	1577 7040 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	A2M ABO FCGR2A G6PD GCLC HP PGK1 RHAG	2 2212 2539 2729 28 3240 5230 6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ACE2 ACE ADAMTS1 ADD1 ADIPOQ ADRB1 ADRB2 AGER AGT AGTR1 AHSG AIMP1 AKT1 ALDH2 ANGPT1 ANGPT2 ANXA5 APEX1 APOA1 APOA4 APOC3 APOE APOH AVPR1A BDKRB1 BDKRB2 BRINP3 C3 C7 C8A C8B CACYBP CAMK2D CASR CAT CCL2 CCL5 CCN2 CCR2 CCR3 CD14 CD36 CD40LG CD59 CDKN1B CFL1 CHI3L1 CIITA CLU COL1A1 COL3A1 COL4A1 COL6A3 CS CSF2 CSF3 CSNK2A1 CSNK2A3 CTLA4 CTSB CYBB CYP11B1 CYP1B1 CYP2J2 CYP2R1 DAB2 DAG1 DCN DVL1 DYRK1A ECE1 EDN1 EDN2 EDNRA EDNRB EPAS1 EPHB1 EPO EPOR ERBB2 ERBB4 ESR1 F12 F13A1 F2 F3 F5 F7 FGB FLT1 FN1 FOS FTO FZD2 G6PD GATA4 GCLC GP1BA GP6 GPX1 GSK3B GSN HADH HFE HGF HIF1A HMGB1 HP HSD11B2 HSPD1 ICAM1 IGF1R IL10 IL17A IL18BP IL4R IL6R INHBA ITGA2 ITGA3 ITGB1 ITGB3 ITIH4 KCNK2 KCNN4 KDM6A KDR KLK1 LAMP2 LCAT LGALS2 LIPG LPA LPL LRP1 LRP8 LRPAP1 LTA MAP3K7 MDH2 MDK MEF2C MIF MLXIPL MMP13 MMP14 MMP1 MMP2 MMP3 MMP9 MTOR MYH7 NCAM1 NFE2L2 NGF NOS2 NOS3 NPPA NPPB NPR1 NR1H3 NRG1 OLR1 OPA1 OPRD1 OPRK1 PAPPA PCSK2 PDE5A PDGFD PEBP1 PECAM1 PGF PLA2G7 PLAT PLAU PLAUR PLCB1 PLCB3 PON1 POSTN PPARA PPARGC1A PROC PSMA6 PTGIS PTGS2 RAD50 RANBP1 RBP4 REG1A REG1B REN RPS6KB1 RYR1 SDC1 SDC4 SELP SERPINE1 SHH SIRT1 SIRT3 SMAD4 SOD1 SOD2 SOD3 SPARC SPP1 TBX3 TEK TFPI TGFB1 TGFB2 TGFBR1 TGFBR2 THBS1 TLR4 TNC TNF TNFRSF11B TNFRSF14 TNFRSF1A TNFRSF1B TNFSF11 TNFSF4 TREM1 TRPV1 TTN UTS2R VCAN VDAC2 VEGFA VEGFB VWF YBX1	10062 10068 10111 1027 10631 1072 10891 1116 118 1191 120227 1232 1277 1281 1282 1293 1431 1437 1440 1457 1462 1490 1493 1508 153 1536 154 1545 1573 1584 1601 1605 1634 1636 177 183 185 1855 1859 1889 1906 1907 1909 1910 197 2034 2047 2056 2057 2064 2066 207 2099 2147 2152 2153 2155 2161 2162 217 2244 2321 23236 2335 23410 23411 2353 2475 2535 2539 2626 27101 2729 2811 283106 2837 284 285 2876 2932 2934 3033 3077 308 3082 3084 3091 3146 3240 328 3291 3329 335 337 3371 3383 339479 345 348 3480 350 3566 3570 3586 3605 3624 3673 3675 3688 3690 3700 3776 3783 3791 3816 3920 3931 3957 4018 4023 4035 4043 4049 4089 4191 4192 4208 4261 4282 4312 4313 4314 4318 4322 4323 4625 4684 4780 4803 4843 4846 4878 4879 4881 4904 4973 4976 4982 4985 4986 5037 5054 5069 51085 51206 5126 5175 5228 5327 5328 5329 5331 54210 5444 5465 552 5624 5687 5740 5743 5902 59272 5950 5967 5968 5972 6198 623 624 6261 6347 6352 6382 6385 6403 6469 6647 6648 6649 6678 6696 6885 6926 7010 7035 7040 7042 7046 7048 7057 7099 7124 7132 7133 718 7273 7292 729230 730 731 732 7403 7417 7422 7423 7442 7450 7804 79068 7941 80310 817 846 847 8600 8654 8764 9255 929 9370 9388 948 9510 959 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:5845	anterolateral myocardial infarction	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	CASR CSF1R FLT1 FLT3 FLT4 KDR KIT SLC34A1 SLC9A1 SLC9A2 SLC9A3 SLC9A4 SLC9A5 TGFB1 YAP1	10413 1436 2321 2322 2324 3791 3815 389015 6548 6549 6550 6553 6569 7040 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	GPI HBB SLC4A1	2821 3043 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:591	phobic disorder	HRAS MED12	3265 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:594	panic disorder Aliases: panic anxiety syndrome	CCKBR HTR1A MANEA MAOA MBL2	3350 4128 4153 79694 887	Homo sapiens (human)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ACAN ACE2 ACE ADAM17 ADIPOQ ADM ADRA2C ADRB1 ADRB2 ADRB3 AGER AGT AGTR1 AGTR2 ALB ALOX12 ALOX15 AOC3 APOA1 APOE ARRB1 BAX CALR CASQ2 CAT CBL CCL2 CCN1 CCR2 CD40LG CHEK2 CHI3L1 CHRM4 CHRNA4 CORIN CREB1 CS CXCR4 CYP11B1 CYP1A2 DDR1 DNMT1 DYRK1A ECE1 EDN1 ENG EP300 EPO ERBB2 ERBB4 EYA4 EZH2 FADS1 FADS2 FAS FASLG FOS FOXC1 FOXO1 FOXP1 FOXP4 FTH1 FTO GNB1 GP6 GRK1 GRK3 GRP HIF1A HMGB1 HP HPR HSF1 HTR2A HTR2B IL10 IL17A IL6 IL6R INHBA KCNE1 KCNK2 LEPR LGALS3 LIF LTBP2 MAS1 MDH2 MED1 MME MMP13 MMP14 MMP1 MMP2 MMP3 MMP8 MMP9 MSTN MTOR MYH7 NCAM1 NFE2L2 NGFR NME2 NOS1 NOS3 NPPA NPPB NPTXR NR3C1 OGT OPA1 OPRK1 P2RX4 PARP1 PGF PHF6 PLA2G7 PLCD1 PLD2 POSTN PPARGC1A PPP1CC PRKCA PTGIS RAC1 RAMP2 RAPGEF3 RBM10 RBP4 REN RRAD RYR1 RYR2 SCN5A SCN8A SELP SIRT3 SLC22A5 SLC2A4 SLC6A4 SLC8A1 SLC9A1 SMC1A SOD2 SOX2 SRA1 SRF TIMP1 TNF TNFRSF11B TNFRSF1B TREM1 UCP2 UCP3 YY1	10011 10266 10411 10631 10699 10891 1116 11200 1132 1137 116113 133 1385 142 1431 152 153 154 1544 155 157 1584 1636 176 177 1786 183 185 1859 186 1889 1906 2022 2033 2056 2064 2066 2070 213 2146 2296 2308 23410 23467 2353 239 246 2475 2495 2660 27086 2782 2908 2922 3091 3146 3240 3250 3297 335 3356 3357 348 3491 355 356 3569 3570 3586 3605 3624 3753 3776 3953 3958 3976 3992 4053 408 4142 4191 4311 4312 4313 4314 4317 4318 4322 4323 4625 4684 4780 4804 4831 4842 4846 4878 4879 4976 4982 4986 5025 51206 5228 5333 5338 54210 5469 5501 5578 5740 581 5879 59272 5950 5972 6011 6236 6261 6262 6331 6334 6347 6403 6517 6532 6546 6548 6584 6648 6657 6722 6868 7076 7124 7133 729230 7351 7352 7528 780 7852 79068 7941 811 8241 8243 84295 845 847 8473 8639 867 9370 9415 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	BAP1 BRCA2 GRM1 HLA-B KDM5B KDR MBD4 MCAM SERPINE1 VEGFA	10765 2911 3106 3791 4162 5054 675 7422 8314 8930	Homo sapiens (human)	Alliance of Genome Resources

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