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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 **15301 - 15325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	APEX1 BIRC2 BRCA1 BSG CD55 CDC25A CDH13 ERBB4 HLA-B HLA-DPB1 HLA-DQB1 HNRNPC HRAS HSPA8 IL10 KDM3A KMT2A KMT2E KRAS MAP2K3 MAP2K6 MDC1 MMP13 MMP1 NRAS PGM3 PTK2 PTPN11 PTPN6 SF3B4 SMAD4 SOS1 TAP1 TNF TNFRSF10A XRCC1 ZFHX3	1012 10262 1604 2066 3106 3115 3119 3183 3265 328 329 3312 3586 3845 4089 4297 4312 4322 463 4893 5238 55818 55904 5606 5608 5747 5777 5781 6654 672 682 6890 7124 7515 8797 9656 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	ABCB1 AKT1 ANGPT1 ANXA7 APC APEX1 APOB BARD1 BRCA1 BRCA2 CALR CBS CCN2 CD59 CD82 CD9 CDH13 CDH1 CHI3L1 COMT CRKL CTNNB1 CYP19A1 DDR1 EEF1A2 EFEMP2 EGF ERBB2 ESR1 F2 F7 FAS FGF7 HDAC3 HFE HIF1A ICAM1 IL10 ITGA8 JAK1 JUP KLK10 KLK4 KLK6 LEF1 MBL2 MET MMP1 MMP8 MRE11 MSH6 MSLN MUC16 MYO6 NASP NBN NME1 NME2 NOD2 NOS3 NRG1 OGG1 OPCML PEBP1 PECAM1 PIK3CA POLE PRKCA PRSS8 PTEN PTGS1 RUNX3 SERPINC1 SFN SHMT1 SLCO1B3 SMAD4 SOD2 SPINT1 STAT3 TBX3 TFF1 TFRC TIMP1 TNF TNFRSF1A TNFRSF1B TYMP UGT1A1 UTRN VEGFC YAP1	1012 10232 10413 1116 1312 1399 1490 1499 1588 1890 1917 1950 2064 207 2099 2147 2155 2252 2810 28234 284 2956 30008 3077 3084 3091 310 324 328 338 3383 355 3586 3716 3728 3732 4089 4153 4233 4312 4317 4361 462 4646 4678 4683 4830 4831 4846 4968 4978 5037 51176 5175 5243 5290 5426 54658 5578 5652 5653 5655 5728 5742 580 64127 6470 6648 6692 672 675 6774 6926 7031 7037 7076 7124 7132 7133 7402 7424 780 811 8516 864 875 8841 928 94025 9622 966 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABCB1 ADAM28 ADGRB1 AGER AKT1 ANXA1 ANXA2 AR AREG CCL5 CD44 CLU CRKL DLG1 EZH2 FOXC1 HIF1A HSD17B1 IL13 INHA JUP KIT MAP2K4 MET MMP13 NCOA4 NEFL NTRK3 PCNA RAD50 RUNX3 SOCS3 TMBIM6 UBR5 VEGFC WIF1 XRCC1	10111 10863 11197 1191 1399 1739 177 207 2146 2296 301 302 3091 3292 3596 3623 367 3728 374 3815 4233 4322 4747 4916 5111 51366 5243 575 6352 6416 7009 7424 7515 8031 864 9021 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	ANGPT1 ANGPT2 ANXA1 APC APOA1 AREG BRD4 BSG CA9 CD44 CD82 CD9 CDKN1B CTNNA1 CTNNB1 CTSB CTSH DAXX EGFR ERBB2 ERBB3 ERBB4 FAS FASLG FGFR2 FGFR3 HRAS IGFBP3 KDR KISS1R KRAS MMP14 MMP15 MMP2 MSH2 NRAS OGG1 PAK1 PHB1 PLA2G4A PLAU POU5F1 PTGES PTGS2 RAD50 REL RELB SFN SKP2 SLC3A2 SLC7A5 SMAD4 SOX2 TERT TFF1 TFRC TIMP1 TP53 TYMP XPO5 XRCC1	10111 1027 1495 1499 1508 1512 1616 1890 1956 2064 2065 2066 2261 2263 23476 2810 284 285 301 324 3265 335 3486 355 356 3732 374 3791 3845 4089 4313 4323 4324 4436 4893 4968 5058 5245 5321 5328 5460 5743 57510 5966 5971 6502 6520 6657 682 7015 7031 7037 7076 7157 7515 768 8140 84634 928 9536 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ACE ACSL3 ADAM28 ADIPOQ ADM AGT AGTR1 AKR1A1 AKT1 ALOX12 AMH ANTXR1 ANXA7 APC APEX1 APOC3 APOE AREG ARID1A ATM ATR BAD BARD1 BAX BCAR1 BCAS2 BIRC2 BMP4 BMP6 BMP7 BRCA1 BRCA2 BTG2 CASP7 CASP9 CBS CCR5 CCR6 CD55 CDH13 CDH1 CDK13 CDK7 CDKN1B CFB CGA CHEK2 CHI3L1 CLU COMT CSF1 CSF1R CSNK2A1 CTCF CTLA4 CTSB CTSD CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP2C19 CYP3A4 DDR1 DLL4 EGFR EGR1 EIF3H ENG EPO EPOR ERBB2 ESR1 F10 F11R F5 F7 FANCD2 FAS FEN1 FGF8 FGFR2 FGFR3 FLT1 FOXA1 FUBP1 GHR GPX1 GRB2 HFE HGF HLA-DQA1 HLA-DRB1 HMMR ICAM1 IFNG IGF1R IGF2 IGFBP3 IGFBP6 IKBKB IL13RA2 IL6 INSR ITGA1 JUN KAT2B KAT6B KAT7 KAT8 KDM1A KDM3B KDM4C KDM5B KDM6A KDR KISS1R KLK3 KLK4 KMT2B KMT2D KMT2E KRAS L3MBTL1 LEP LHCGR LNPEP LTA MAP2K1 MAP2K2 MAP2K3 MAP3K1 MAPT MDM2 MET MGMT MKI67 MMP1 MMP3 MMP8 MRE11 MSH2 MSH6 MUC1 MYC MYD88 NBN NCOA3 NCOA6 NCOR2 NFKB1 NME1 NOD2 NOS3 NUF2 OGG1 PAK1 PDGFA PDGFRB PGF PHB1 PIK3CA PLAU PLCG1 PLPP4 PON1 PPM1D PRKAA1 PTEN PTGES3 PTGS1 PTPN13 RAC1 RAD50 RB1CC1 REL RELB RHOA RHOB RHOC RNASEL RNF20 RUNX3 SERPINE1 SETD5 SHMT1 SIX1 SKP2 SMARCA4 SNCG SNW1 SOD2 SOX2 SPINT1 SRSF5 STAT1 STAT3 SULT1E1 TET2 TFRC TGFB1 THRA TIMP1 TIMP3 TK1 TLR2 TLR4 TLR9 TNF TNFAIP3 TP53 TSC1 TSC2 TUT4 TWIST1 UBR5 UGT1A1 WIF1 WNT1 WNT2 WNT7B WNT9A XIAP XPO5 ZFHX3	10111 1012 1022 1027 10286 10327 10664 10728 10765 1081 10863 11143 1116 11197 11200 1191 1234 1235 1312 133 1435 1436 1457 1493 1508 1509 1543 1544 1545 1557 1576 1586 1588 1604 1636 1727 183 185 1956 1958 196051 2022 2056 2057 2064 207 2099 2153 2155 2159 2177 2181 2237 2253 2261 2263 22938 23028 23054 23081 2321 23318 23522 239 26013 268 2690 2876 2885 2956 3077 3082 310 3117 3123 3161 3169 324 328 329 331 3383 345 3458 348 3480 3481 3486 3489 354 355 3551 3569 3598 3643 3672 3725 374 3791 3845 387 388 389 3952 3973 4012 4049 4137 4193 4214 4233 4255 4288 4312 4314 4317 4361 4436 4582 4609 4615 463 4683 472 4790 4830 4846 4968 5054 5058 50848 51366 5154 5159 51780 5228 5245 5290 5328 5335 54106 5444 545 54567 54658 54790 55209 5562 55904 5604 5605 5606 56254 572 5728 5742 57510 5783 580 581 5879 5966 5971 6041 629 64127 6430 6470 6495 6502 652 654 655 6597 6623 6648 6657 6692 672 675 6772 6774 6783 7037 7040 7067 7076 7078 7083 7097 7099 7124 7128 7157 7248 7249 7291 7403 7471 7472 7477 7483 780 7832 8085 8202 8289 83540 840 84148 84168 842 84634 8493 8621 864 8667 875 8850 8880 9370 9564 9612 9622 9757 9821 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	OPN1LW OPN1MW2 OPN1MW3 OPN1MW	101060233 2652 5956 728458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	edem3.L galnt2.L galnt2.S	101027298 108716128 443907	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:9498	pulmonary eosinophilia	ADAM8 IL10 IL1RN IL5	101 3557 3567 3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	ABCB1 ABO ACE ACSL3 ADAM33 ADAM8 ADH5 ADORA1 ADORA2A ADRB2 AGER AGTR1 AGTR2 ALOX5 AMBP BDKRB2 BDNF BMPR1B BMPR2 C3 C3AR1 C5 C5AR1 CAT CCL11 CCL1 CCL24 CCL2 CCL5 CCL7 CCR2 CCR3 CCR4 CCR5 CCR9 CD14 CD209 CD28 CD40 CD86 CDH1 CFTR CHAT CHI3L1 CHIA CHML CHRM1 CHRM2 CHRM3 CLCA1 CMA1 CRHR1 CRHR2 CSF2 CSF2RB CSF3 CTLA4 CX3CL1 CXCR3 CYP2E1 CYSLTR1 CYSLTR2 DCN DEFB1 DPP10 EDN1 EDNRB EGFR EGR1 EPX F2 F2RL1 F7 FAS FCER1A FCGR2A FCGR3A FGA GATA3 GC GSTO2 HAVCR1 HDAC2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HLA-G HMGCR HP ICAM1 IFNG IFNGR1 IFNL1 IL10 IL12B IL13 IL13RA1 IL13RA2 IL15 IL16 IL17A IL18R1 IL19 IL1A IL1RL1 IL1RN IL21 IL22 IL2 IL2RA IL2RB IL3 IL4 IL4R IL5 IL5RA IL6 IL9 IL9R IRAK3 ITGB3 ITGB6 ITPR1 KDR LEP LGALS3 LTA4H LTA MBL2 MEFV MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B MUC7 MYLK NFE2L2 NGF NOD2 NOS1 NOS2 NOS3 NPSR1 NR3C1 NTF3 NTRK1 ORMDL1 ORMDL2 P2RY12 PARP1 PDGFB PGF PLA2G4A PLA2G7 PLAU PRF1 PRG2 PRMT5 PROC PTGDR2 PTGDR PTGER3 PTGS2 RHOA RUNX3 SERPINA1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SLC18A3 SLC22A1 SLC5A7 SLC6A4 SOD2 STAT1 STAT4 STAT6 TACR1 TACR2 TAP1 TBXA2R TGFB1 THBD TLR10 TLR1 TLR2 TLR3 TLR4 TLR6 TLR9 TNC TNF TRPA1 VEGFA	101 10333 10419 1080 10800 10803 1103 1116 11213 1122 11251 1128 1129 1131 1179 119391 1215 1232 1233 1234 128 134 135 1394 1395 142 1437 1439 1440 1493 154 1571 1634 1636 1672 177 185 186 1906 1910 1956 1958 2147 2150 2155 2181 2205 2212 2214 2243 240 259 2625 2638 26762 27159 28 282618 2833 2908 29095 29949 3066 30835 3106 3113 3115 3117 3118 3119 3122 3123 3125 3135 3156 3240 3371 3383 3458 3459 355 3552 3557 3558 3559 3560 3562 3565 3566 3567 3568 3569 3578 3581 3586 3593 3596 3597 3598 3600 3603 3605 3690 3694 3708 3791 387 387129 3952 3958 4048 4049 4153 4210 4282 4318 4353 4582 4583 4586 4589 4638 4780 4803 4842 4843 4846 4908 4914 5054 50616 5155 5228 5243 5265 5321 5328 54106 5551 5553 5624 57105 5729 5733 5743 57628 59067 60482 624 627 6346 6347 6352 6354 6356 6369 6376 64127 6439 6440 6441 64805 6532 653509 6572 658 6580 659 6648 6772 6775 6778 6865 6869 6890 6915 7040 7056 7096 7097 7098 7099 7124 718 719 727 727897 728 729230 729238 7422 7941 80332 81793 8288 847 864 8809 8989 9173 929 940 94101 942 958 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ACE2 ACE ADAM8 ADAM9 ALB ANXA2 ANXA5 BMI1 CALR CCKAR CCKBR CD40 DNMT1 EGF FASLG FSCN1 HDAC1 HEATR1 IGF1R IL4 IL4R INS KDM2B KRT7 L1CAM MCM7 MDM2 MET MGMT MMP2 MMP9 MSLN MUC1 MUC3A MUC4 MUC5AC MUC5B NME1 NTRK3 PALLD PMS1 PPARG RNF2 SERPINA1 SMAD4 SMO TGFB1 TGFBR2 THBS1 TMPRSS3 TSC2 TYMP	101 10232 1636 1786 1890 1950 213 23022 302 3065 308 3480 356 3565 3566 3630 3855 3897 4089 4176 4193 4233 4255 4313 4318 4582 4584 4585 4586 4830 4916 5265 5378 5468 55127 59272 6045 64699 648 6608 6624 7040 7048 7057 7249 727897 811 84678 8754 886 887 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACO2 AIMP1 APLP2 BCL11A BCL11B CAT CLEC16A DEGS1 DEGS2 DVL1 DVL3 DYNC1H1 EPO FAT4 FIG4 FUS GC GGA2 GGA3 GRIA1 GRIA2 GRIA3 GRIA4 GRIK1 GRIK2 GRIK3 GRIN1 HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 HPDL HTT KIF5B LATS1 LATS2 LRRK2 MAPT MARK2 MARK3 MARS2 MEGF10 MEGF11 MTMR10 MTMR11 NFKB1 NFKB2 NPLOC4 NRDC NUP50 PACSIN2 PEAR1 PLA2G6 PNPLA6 PNPLA7 PON1 PON2 PON3 PRKAG2 PRKAG3 PSMA3 PSMA5 PSMB1 PSMC4 PSMD2 PTCH1 PTCH2 RASA1 RHOA RHOB RHOC SARM1 SCNN1A SCNN1B SCNN1D SCNN1G SDHA SLC17A6 SLC17A8 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 STK4 TARDBP TBP TPI1 TRAK1 TRAK2 TRPC4 TRPC5 TSPAN3 TSPAN7 UBQLN1 UBQLN2 UBQLN4 UBR1 UFD1 VAPA VAPB VCP YAP1 YBX2	10099 10413 10762 10903 10908 11252 120892 123099 144983 1778 1855 1857 197131 2011 2056 220988 22906 23062 23098 23163 23274 23435 246213 2521 2638 26524 2890 2891 2892 2893 2897 2898 2899 2902 29978 29979 3064 3178 3181 334 375033 375775 3799 387 388 389 4137 4140 4790 4791 4898 50 51087 51422 53335 53632 5444 5445 5446 54893 55666 5684 5686 5689 56893 5704 5708 57084 5727 5921 6337 6338 6339 6340 6389 64919 6505 6506 6507 6509 6510 6511 6512 66008 6789 6908 7102 7167 7223 7224 7353 7415 79633 8398 84465 84466 847 84842 8560 8643 9113 9217 9218 9255 92935 9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:850	lung disease	ACE2 ACE ACTR2 ADORA1 ADORA2A APEX1 BDKRB2 C3AR1 C5AR1 CAT CCL2 CCL5 CCR2 CFTR CNTN2 COL5A2 CSF3 CX3CL1 DEFB1 EDNRA EGFR EGR1 F2RL1 GPX3 GSN HLA-DPB1 IFNG IL10 IL13 IL15 IL18R1 IL1A IL2 IL6 MEFV MIF MMP9 MPO MUC1 NOS2 NOS3 NR3C1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TGFB1 TLR2 TLR4 TNF	10097 1080 1290 134 135 1440 1636 1672 1909 1956 1958 2150 2878 2908 2934 3115 328 3458 3552 3558 3569 3586 3596 3600 4210 4282 4318 4353 4582 4843 4846 5054 59272 624 6347 6352 6376 6439 6440 6441 653509 6900 7040 7097 7099 7124 719 728 729230 729238 847 8809	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:0081399	autosomal dominant distal hereditary motor neuronopathy 10	Emilin1	100952	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	ARPC1B CBLIF CCL2 NOD2 PTGS2 TNF	10095 2694 5743 6347 64127 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	ABL1 AGAP2 ARID2 ARPC1B ATM AZGP1 BIRC2 BRINP2 BST2 CALR CBX2 CCL2 CCR2 CDC73 CDH1 CHAF1B CLPTM1L CTNND1 CYP1A1 CYP24A1 CYP2E1 DAXX DDR1 DDR2 DOCK6 EGFR ERBB2 ERBB4 EZH2 FAT1 FGFR3 FGFR4 FLT3 FOSL2 GAPDH GSK3B H2AX HP IL10 IL13RA2 IL2 IL6 JUN JUNB KMT2D MET PLAU PLCG1 PRDX2 PTEN PTGIS PTPN13 RELA SERPINE1 SKP2 SLC7A5 TERT TET2 TNF TP53 TTR WNT11	10095 116986 1500 1543 1571 1591 1616 1956 196528 2064 2066 2146 2195 2261 2264 2322 2355 25 2597 2932 3014 3240 329 3558 3569 3586 3598 3725 3726 4233 472 4921 5054 5328 5335 54790 563 5728 5740 57572 57795 5783 5970 6347 6502 684 7001 7015 7124 7157 7276 729230 7481 780 79577 8085 81037 811 8140 8208 84733 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	ABL1 ACE ACVR1B ADAR ADGRB1 ADM AKR1B1 ANXA1 APC ARID1A ARPC1B ASPM ATM ATP4B BAMBI BAX BCOR BGN BRCA1 BST2 CALR CASP9 CCL5 CCN3 CD1D CD274 CD8A CDK12 CES1 CHRNA3 COL6A3 CSF1R CTNNB1 CUX1 CXCR4 CYP1A1 CYP2E1 DAXX DDR2 DICER1 DOCK6 EEF1E1 EEF2 EFNB1 EFNB2 EPHB1 ERBB2 ERCC5 ERCC6 EZH2 FGFR2 FGFR4 FOXA1 FOXM1 FUBP1 FUT11 GDA GLDC GPX1 GPX3 GSE1 HDAC2 HLA-DQA1 IDH2 IGFBP3 IL10 IL1RN IL5 IL6 IL6R IL6ST IL7R JAK1 KDM6A KDR KIF18A KMT2C KMT2D KRAS LRP1B LRRN1 MAP3K1 MAP4K4 MKI67 MMP9 MUTYH NBEA NCOA2 NFKB1 NTRK3 NUF2 PARP1 PCNA PDCD1 PIK3CA PTCH1 PTEN PTPN11 RAC1 RGN RICTOR RNF43 RUNX1 RUNX3 SETD2 SGCE SHH SLC7A5 SMO SOD2 SPOP SRC STAT3 STIM1 TBX3 TEP1 TERT TET2 TFF1 TMEM260 TNFRSF11A TP53 TTR UBR5 XPO1 XRCC1	10095 103 10499 1066 1136 1293 133 142 1436 1499 1523 1543 1571 1616 1636 170384 1938 1947 1948 2047 2064 2073 2074 2146 2263 2264 2305 231 23199 23405 25 253260 25805 259266 26960 2731 2876 2878 29072 29126 301 3066 3117 3169 324 3418 3486 3557 3567 3569 3570 3572 3575 3586 3716 3791 3845 4214 4288 4318 4595 472 4790 4856 4916 4921 496 5111 5133 51366 51755 5290 53353 54790 54880 54894 54916 5727 5728 575 57572 57633 5781 581 58508 5879 633 6352 6469 6608 6648 6714 672 6774 6786 684 6926 7011 7015 7031 7157 7276 7403 7514 7515 7852 8085 811 8140 81930 8289 83540 8405 842 861 864 8792 8880 8910 91 9104 912 925 9448 9521 9615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 BAP1 CD40 CDKN1B CREBBP CSF3R DDX42 EGR1 EZH2 FAS FASLG FCGR3A GATA2 GNB1 HFE IDH1 ITGB3 KDM1A MACROH2A1 MDM2 MEFV MYBL2 NPM1 NRAS PLCB1 PRPF8 SAMD9L SF3B1 SLC22A5 SRSF11 TERT TET2 TNF TP53 XRCC1 ZRSR2	10095 1027 10594 11325 1387 1441 171023 1958 2146 219285 2214 23028 23236 23451 2624 2782 3077 3417 355 356 3690 4193 4210 4605 4869 4893 54790 6584 7015 7124 7157 7515 8233 8314 9295 9555 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ARPC5 CARD10 CARD9 CD8A CTLA4 CTNNBL1 FADD FCHO1 FNIP1 IFNAR1 IKZF3 IL2 IL6ST IL7R IRAK4 LIG1 MAGT1 MCM10 MCTS1 MPEG1 MYD88 OAS1 OTULIN PIK3CG PTPRC REL SLC19A1 SPPL2A STK4 SYK TET2 TLR3 TLR4 TLR5 TLR8 TNFRSF9 TPP2 ZNFX1	10092 1493 219972 22806 23149 28985 29775 3454 3558 3572 3575 3604 3978 4615 4938 51135 51311 5294 54790 55388 56259 57169 5788 5966 64170 6573 6789 6850 7098 7099 7100 7174 84061 84888 8772 90268 925 96459	Homo sapiens (human)	Alliance of Genome Resources
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	ARPC5 ATM ATRX BSG CHRNA5 CHRNB4 CLPTM1L CSF1R CTNNB1 CYP1B1 DDR2 E2F1 ERCC6 FAP FGF9 FGFR4 FRZB FUBP1 GPX1 IDH1 IDH2 KMT2D LAMC2 POLE PREX2 PTCH1 PTK2 PTPN13 PTPRJ SFTPB SLC7A5 SOX30 SRC TERT	10092 11063 1138 1143 1436 1499 1545 1869 2074 2191 2254 2264 2487 2876 3417 3418 3918 472 4921 5426 546 5727 5747 5783 5795 6439 6714 682 7015 80243 8085 81037 8140 8880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	ARPC5 DUOX1 DUOX2 EGR1 FOS G6PD GH2 GHR INHBB NEFH NEFL NEFM NGFR PAX8 PPARGC1A RUNX2 SLC26A7 SLC5A5 TG TPO TRHR TSHR	10092 10891 115111 1958 2353 2539 2689 2690 3625 4741 4744 4747 4804 50506 53905 6528 7038 7173 7201 7253 7849 860	Homo sapiens (human)	Alliance of Genome Resources
DOID:1508	candidiasis Aliases: Disseminated candidiasis systemic candidiasis	ANP32B ANP32E ARPC5 ARPC5L CCT2 DHX36 EIF4E ELOA2 ELOA FTH1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT9 LTF PRKD2 RRAGC SEC13 SMAP1 SMAP2 SMARCE1 UBXN4	10092 10541 10576 10690 170506 1977 23190 2495 2525 2526 2527 2528 2529 25865 4057 51224 60682 6396 64121 64744 6605 6924 81611 81873	Homo sapiens (human)	Alliance of Genome Resources

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