Enfermedades hematológicas
EPO, GATA1, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, TSR2
ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, CXCR4, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2
ALAS2, C15orf41, CDAN1, GATA1, KIF23, KLF1, LPIN2, SEC23B
ABCB6, ABCG5, ABCG8, ADA, AK1, ALAS2, ALDOA, ANK1, BPGM, C15orf41, CD59, CDAN1, COL4A1, CYB5R3, EPB41, EPB42, FANCA, FANCC, FANCG, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, GYPC, HBB, HBD, HK1, HMOX1, KIF23, KLF1, LPIN2, NT5C3A, PFKL, PFKM, PGK1, PIEZO1, PKLR, RHAG, SEC23B, SLC2A1, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, STOM, TPI1, UGT1A1, UGT1A6, UGT1A7, XK
AMN, CUBN, DHFR, GIF, LMBRD1, MMACHC, MMADHC, MTHFD1, MTR, SLC19A1, SLC19A2, TCN2, UMPS
ABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2
ABCB6, ABCB7, ABCG5, ABCG8, ACTB, ACVRL1, ADA, ADA2, ADAMTS13, ADAR, AFF2, AIRE, AK1, AK2, ALAS2, ALDOA, AMN, ANK1, ANKRD11, ANKRD26, AP1S2, AP3B1, ATM, ATR, ATRX, BLM, BLOC1S3, BLOC1S6, BPGM, BRAF, BRCA1, BRCA2, BRIP1, C15orf41, C3, C3AR1, CASK, CASP10, CASP8, CBL, CD27, CD3G, CD40LG, CD46, CD59, CDAN1, CDKN2A, CEBPA, CFB, CFH, CFHR5, CFI, CLCN7, CLPB, COG6, COL4A1, CSF2RA, CSF3R, CTC1, CTLA4, CTSC, CUBN, CXCR4, CYB5R3, DHFR, DKC1, DNASE2, DTNBP1, ELANE, ENG, EPB41, EPB42, EPCAM, EPO, ERCC4, ERCC6L2, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FECH, FMR1, G6PC3, G6PD, GATA1, GATA2, GBA, GCLC, GDF2, GFI1, GIF, GLRX5, GP1BA, GPI, GPX1, GSR, GSS, GYPC, HAX1, HBA1, HBA2, HBB, HBD, HFE, HK1, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSPA9, HUWE1, IFNGR2, IKZF1, ITGA2B, ITK, JAGN1, KDM5C, KIF23, KLF1, KRAS, LAMTOR2, LMBRD1, LPIN2, LYST, MAGT1, MAP2K1, MAP2K2, MECOM, MLH1, MMACHC, MMADHC, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, NF1, NHP2, NHS, NOP10, NRAS, NT5C3A, PALB2, PARN, PAX5, PC, PDHA1, PDHX, PFKL, PFKM, PGK1, PGM3, PHF8, PIEZO1, PKLR, PMS2, PORCN, POT1, PQBP1, PRF1, PRKACG, PRPS1, PTPN11, PUS1, RAB27A, RAB40AL, RAC2, RAD51, RAD51C, RBM8A, RECQL4, REN, RHAG, RIT1, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SBDS, SEC23B, SH2D1A, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC37A4, SLC46A1, SLC4A1, SLC9A6, SLCO1B1, SLCO1B3, SLX4, SMS, SOS1, SPTA1, SPTB, SRP72, STAT3, STOM, STX11, STXBP2, TBXAS1, TCN2, TERT, TF, THBD, THPO, TIMM8A, TINF2, TMPRSS6, TP53, TPI1, TRNT1, TSR2, TUBB1, UBE2A, UBE2T, UGT1A1, UGT1A6, UGT1A7, UMPS, UNC13D, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, XK, XRCC2, YARS2, ZCCHC8, ZDHHC9
ABCG5, ABCG8, ACTN1, ACVRL1, ADAM17, ADAMTS13, ADAMTS2, ANKRD26, ANO6, AP3B1, BLOC1S3, BLOC1S6, BRAF, C1R, CCM2, CD36, CD40LG, CDC42, CHST14, COG6, COL1A2, COL3A1, COL4A1, CTC1, CYCS, DIAPH1, DTNBP1, EFEMP2, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FANCA, FANCC, FANCD2, FANCE, FERMT3, FGA, FGB, FGG, FLI1, FLNA, GATA1, GBA, GDF2, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, GUCY1A1, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HRG, IGFBP7, IL2RG, ITGA2, ITGA2B, ITGB3, JAM3, KDSR, KLKB1, KNG1, KRAS, KRIT1, LMAN1, LYST, LYZ, MAP2K1, MAP2K2, MASTL, MCFD2, MECOM, MPL, MYH9, NBEAL2, NF1, NRAS, P2RX1, P2RY12, PDCD10, PLA2G4A, PLAT, PLAU, PLG, PRKACG, PROC, PROS1, PTPN11, RASGRP2, RBM8A, RIT1, RUNX1, SBDS, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC35A1, SLC37A4, SLC7A7, SMAD4, SOS1, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS, WIPF1
F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, GP1BA, KLKB1, KNG1, LMAN1, MCFD2, PLG, SERPINE1, SERPINF2, VKORC1, VWF
AK2, CTC1, DKC1, GRHL2, LIG4, NHP2, NOP10, PARN, POT1, RTEL1, TERT, TINF2, TYMS, USB1, WRAP53
ABCA3, ABCB6, ABCB7, ABCG5, ABCG8, ACBD5, ACP5, ACTA2, ACTB, ACTN1, ACVRL1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS2, ADAR, AFF2, AIRE, AK1, AK2, ALAS2, ALDOA, AMN, ANK1, ANKRD11, ANKRD26, ANO6, ANTXR1, AP1S2, AP3B1, AP3D1, ASXL1, ATM, ATR, ATRX, BCL2, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BMPR1A, BMPR2, BPGM, BRAF, BRCA1, BRCA2, BRIP1, BTK, C15orf41, C1R, C1S, C2, C3, C3AR1, C4BPA, C8A, C9, CALR, CASK, CASP10, CASP8, CAV1, CBL, CBS, CCBE1, CCM2, CD19, CD27, CD36, CD3G, CD40LG, CD46, CD55, CD59, CD81, CDAN1, CDC42, CDKN2A, CEBPA, CELSR1, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CHD2, CHEK2, CHST14, CLCN7, CLPB, COG6, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CR1, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTSC, CUBN, CXCR4, CYB5R3, CYCS, DGKE, DHFR, DIAPH1, DKC1, DNASE2, DNMT3A, DOCK6, DTNBP1, EFEMP2, EGLN1, EGR2, ELANE, ELMOD2, ENG, EPAS1, EPB41, EPB42, EPCAM, EPHB4, EPO, EPOR, ERCC4, ERCC6L2, ETV6, EZH2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBN1, FBN2, FBXW7, FECH, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FLT4, FMR1, FOXC2, G6PC3, G6PD, GATA1, GATA2, GATA5, GBA, GCLC, GDF2, GFI1, GFI1B, GGCX, GIF, GJA1, GJC2, GLMN, GLRX5, GNAQ, GNE, GP1BA, GP1BB, GP6, GP9, GPI, GPR143, GPX1, GRHL2, GSR, GSS, GUCY1A1, GYPC, HAX1, HBA1, HBA2, HBB, HBD, HFE, HGF, HIF1A, HK1, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HRG, HSPA9, HUWE1, IDH1, IDH2, IFNGR2, IGFBP7, IKZF1, IKZF3, IL2RG, INF2, IRF4, ITGA2, ITGA2B, ITGB3, ITK, JAGN1, JAK2, JAM3, KCNK3, KDM5C, KDR, KDSR, KIF11, KIF23, KIT, KLF1, KLKB1, KNG1, KRAS, KRIT1, LAMTOR2, LIG4, LMAN1, LMBRD1, LMNA, LPIN2, LYST, LYZ, MAGT1, MAP2K1, MAP2K2, MASP1, MASTL, MCFD2, MECOM, MED12, MLH1, MMACHC, MMADHC, MPL, MRTFA, MSH2, MSH6, MTHFD1, MTR, MYD88, MYH11, MYH9, MYLK, MYO5A, NBEA, NBEAL2, NBN, NF1, NHP2, NHS, NKX2-1, NKX2-5, NOP10, NOTCH1, NPM1, NRAS, NT5C3A, OCA2, ORAI1, P2RX1, P2RY1, P2RY12, PALB2, PARN, PAX5, PC, PDCD10, PDHA1, PDHX, PFKL, PFKM, PGK1, PGM3, PHB, PHF8, PIEZO1, PIK3CA, PKLR, PLA2G4A, PLAT, PLAU, PLG, PLOD1, PMS2, PORCN, POT1, PQBP1, PRF1, PRKACG, PRKG1, PROC, PROS1, PRPS1, PTEN, PTGS1, PTPN11, PTPN14, PTPRJ, PUS1, RAB27A, RAB40AL, RAC2, RAD21, RAD51, RAD51C, RASA1, RASGRP2, RBM8A, RECQL4, REN, RHAG, RHCE, RHD, RIT1, RNF168, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMHD1, SBDS, SEC23B, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SF3B1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SH2B3, SH2D1A, SKI, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC2A10, SLC35A1, SLC37A4, SLC45A2, SLC46A1, SLC4A1, SLC7A7, SLC9A6, SLCO1B1, SLCO1B3, SLX4, SMAD3, SMAD4, SMAD6, SMC1A, SMC3, SMS, SOS1, SOX18, SPTA1, SPTB, SRC, SRP72, STAMBP, STAT3, STIM1, STOM, STX11, STXBP2, TBXA2R, TBXAS1, TCN2, TEK, TERT, TET2, TF, TGFB2, TGFBR1, TGFBR2, THBD, THPO, TIMM8A, TINF2, TMPRSS6, TP53, TPI1, TRNT1, TSR2, TUBB1, TYR, TYRP1, UBE2A, UBE2T, UGT1A1, UGT1A6, UGT1A7, UMPS, UNC13D, USB1, VEGFC, VHL, VIPAS39, VKORC1, VPS13B, VPS33B, VPS45, VWF, WAS, WIPF1, WRAP53, WT1, XIAP, XK, XPO1, XRCC2, YARS2, ZCCHC8, ZDHHC9
ACVRL1, ANK1, BPGM, CALR, CYB5R3, EGLN1, ENG, EPAS1, EPB41, EPB42, EPO, EPOR, GDF2, HBA1, HBA2, HBB, HIF1A, JAK2, PIEZO1, PKLR, RHAG, SH2B3, SLC4A1, SPTA1, SPTB, TET2, VHL
ANK1, EPB41, EPB42, SLC4A1, SPTA1, SPTB
ABCB6, PIEZO1, RHAG, RHCE, RHD, SLC2A1, SLC4A1
ANKRD26, ASXL1, ATM, BCL2, BLM, BRAF, BRCA1, BRCA2, BRIP1, BTK, CBL, CDKN2A, CEBPA, CHD2, CHEK2, CREBBP, DKC1, DNMT3A, EGR2, ELANE, EPCAM, ERCC6L2, ETV6, EZH2, FANCA, FBXW7, FLT3, G6PC3, GATA2, GFI1, HAX1, HRAS, IDH1, IDH2, IKZF1, IKZF3, IRF4, JAK2, KIT, KRAS, MAP2K1, MAP2K2, MECOM, MLH1, MSH2, MSH6, MYD88, NBN, NF1, NOTCH1, NPM1, NRAS, PALB2, PAX5, PDGFRB, PHF6, PMS2, POT1, PTPN11, RAD21, RIT1, RPS15, RTEL1, RUNX1, SAMD9, SAMHD1, SBDS, SF3B1, SMC1A, SMC3, SOS1, SRP72, SRSF2, STAG2, TERT, TET2, TINF2, TP53, U2AF1, WT1, XPO1
AP3B1, BLOC1S3, BLOC1S6, CCBE1, CELSR1, DTNBP1, EPHB4, FAT4, FLT4, FOXC2, GATA2, GBA, GJA1, GJC2, GP1BA, GP1BB, GP9, HGF, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KIF11, NBEAL2, P2RY12, PIEZO1, PIK3CA, PTPN14, RASA1, RASGRP2, RUNX1, SOX18, TBXA2R, THPO, VEGFC, WIPF1
ACTA2, ACVRL1, ANTXR1, BMPR1A, BMPR2, CAV1, CBS, CCM2, COL1A1, COL3A1, COL5A1, COL5A2, DOCK6, ENG, EPHB4, FBN1, FBN2, FLNA, GDF2, GLMN, GNAQ, KCNK3, KDR, KRIT1, MED12, MYH11, MYLK, NOTCH1, PDCD10, PIK3CA, PLOD1, PRKG1, PTEN, RASA1, SKI, SLC2A10, SMAD3, SMAD4, SOX18, STAMBP, TEK, TGFB2, TGFBR1, TGFBR2
ABCA3, AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DKC1, DTNBP1, ELMOD2, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, NKX2-1, OCA2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC45A2, TERT, TINF2, TYR, TYRP1
SCNN1A, SCNN1B, SCNN1G
FLT4, GJC2, VEGFC
ADAMTS13, C1S, C2, C3, C3AR1, C4BPA, C8A, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CR1, CR2, DGKE, F12, G6PD, INF2, LMNA, MASP1, MMACHC, PHB, PIGA, PLG, THBD, VWF
ACVR1, TMPRSS6
ABCG5, ABCG8, ACBD5, ACP5, ACTB, ACTN1, ADA, ADAMTS13, ANKRD11, ANKRD26, ANO6, AP3B1, AP3D1, BLOC1S3, BLOC1S6, BRCA2, C3, C3AR1, CASP10, CASP8, CD19, CD36, CD40LG, CD46, CD81, CDC42, CFB, CFH, CFHR4, CFHR5, CFI, CLCN7, COG6, CTC1, CTLA4, CYCS, DGKE, DHFR, DIAPH1, DKC1, DNASE2, DTNBP1, ERCC4, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FAS, FASLG, FERMT3, FLI1, FLNA, G6PC3, GATA1, GATA2, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, IKZF1, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KRAS, LIG4, LYST, MASTL, MECOM, MPL, MRTFA, MTHFD1, MYH9, NBEA, NBEAL2, NBN, NHP2, NOP10, NRAS, ORAI1, P2RX1, P2RY1, P2RY12, PLA2G4A, PLAU, PRF1, PRKACG, PTGS1, PTPN11, PTPRJ, RAB27A, RASGRP2, RBM8A, RPS19, RUNX1, SAMD9, SBDS, SH2D1A, SLC19A2, SLC37A4, SLC46A1, SLX4, SRC, STAT3, STIM1, STX11, STXBP2, TBXA2R, TBXAS1, TERT, THBD, THPO, TINF2, TUBB1, UBE2T, UNC13D, VIPAS39, VPS33B, VPS45, VWF, WAS, WIPF1
GATA5, NKX2-5, NOTCH1, SMAD6
