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Hematología

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Resultado búsqueda

Anemia de Blackfan-Diamond

26 genes

ADA2, EPO, FLVCR1, GATA1, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS14, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2

Anemia de Fanconi

47 genes

ALDH2, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, CENPX, CHEK2, COX4I1, CXCR4, EIF2AK2, ERCC1, ERCC4, ERCC6L2, FAAP100, FAAP20, FAAP24, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, HES1, IL3RA, MAD2L2, NBN, PALB2, RAD51, RAD51C, REV1, RFWD3, RNF8, RPS19, SLX4, TP53, UBE2T, USP1, XRCC2, XRCC6, ZBTB32

Anemias

180 genes

ABCB6, ABCB7, ABCG8, ADA, ADAMTS13, ADAR, AK1, ALAD, ALAS2, ALDOA, AMN, ANK1, ATM, ATP11C, ATP7B, ATR, ATRX, BLM, BPGM, BRCA2, BRIP1, BTNL2, C15ORF41, C3, CASK, CASP10, CD19, CD3G, CD40LG, CD46, CD59, CD81, CDAN1, CFB, CFH, CFHR1, CFHR3, CFI, CIITA, CLCN7, COL4A1, CPOX, CR2, CTLA4, CUBN, CYB5R3, DGKE, DHFR, DNAJC21, DNASE1, DNASE2, EFL1, EPB41, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FCGR2A, FCGR2B, FECH, FOXP3, G6PD, GALT, GATA1, GCLC, GP1BA, GPI, GPX1, GSR, GSS, GYPC, HBA1, HBA2, HBB, HFE, HK1, HLA-DRB1, HMOX1, ICOS, IL2RA, IL2RB, KCNN4, KDM6A, KIF23, KLF1, KMT2D, KRAS, LAT, LCAT, LPIN2, LRBA, MS4A1, MTR, NBN, NFKB1, NFKB2, NHLRC2, NLRP1, NRAS, NT5C3A, PALB2, PC, PDHA1, PDHX, PFKM, PGK1, PGM3, PIEZO1, PIGA, PIGT, PKLR, PNP, PRKCD, PTPN22, PUS1, RAD51C, RAG1, RAG2, RASGRP1, REN, RFX5, RFXANK, RFXAP, RHAG, RPL11, RPL15, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, SBDS, SEC23B, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC4A1, SLX4, SPTA1, SPTB, SRP54, STAT1, STAT3, STAT4, STIM1, TCN2, TF, THBD, TMPRSS6, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF4, TPI1, TREX1, TTC7A, UROD, UROS, WAS, WIPF1, XRCC2, YARS2, ZAP70

Aplasia medular

63 genes

ARHGEF1, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BTK, CARD11, CARMIL2, CD247, CD3D, CD3E, CD3G, CD40LG, CORO1A, CTPS1, CYBB, DOCK2, FCGR3A, GATA2, GINS1, HYOU1, IFNAR2, IFNGR1, IFNGR2, IKBKB, IKBKG, IL12B, IL12RB1, IL17RA, IL21R, IL2RA, IL2RB, IL2RG, IRF7, IRF8, IRF9, ISG15, LAT, LCK, MALT1, MCM4, MSN, ORAI1, PGM3, PIK3CD, PIK3R1, PRKDC, RASGRP1, RELB, RIPK1, RORC, SH2D1A, SH3KBP1, STAT1, STAT2, STIM1, TFRC, TNFRSF4, TYK2, UNC119, WAS, ZAP70

Esferocitosis hereditaria

5 genes

ANK1, EPB42, SLC4A1, SPTA1, SPTB

Hemocromatosis

7 genes

BMP2, FTH1, HAMP, HFE, HJV, SLC40A1, TFR2

Linfohistiocitosis hemofagocítica

26 genes

ADA, AP3B1, BLOC1S6, BTK, CD27, CD70, GATA2, HAVCR2, IL2RA, IL2RG, ITK, LYST, MAGT1, MVK, NLRC4, PNP, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, TNFRSF1A, UNC13D, WAS, XIAP

Linfopenia

100 genes

ACP5, ADA, ADAMTS3, AK2, ATM, BCL11B, C1QA, C1R, CASP10, CCBE1, CD19, CD247, CD3D, CD3E, CD3G, CD81, CD8A, CDCA7, CHD7, CIITA, CORO1A, CR2, CTLA4, CTPS1, CXCR4, DCLRE1C, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, EXTL3, FAS, FASLG, FAT4, FOXN1, G6PC3, GATA2, GFI1, HELLS, ICOS, IKZF1, IL2RA, IL2RG, IL7R, JAK3, LCK, LEP, LEPR, MAGT1, MS4A1, MSN, MTHFD1, MYC, NBN, NFKB1, NFKB2, NHEJ1, PGM3, PIK3CD, PIK3R1, PNP, PRKCD, PSMB4, PSMB9, PTEN, PTPRC, RAG1, RAG2, RASGRP1, RFX5, RFXANK, RFXAP, SAMD9, SEMA3E, SGPL1, SKIV2L, SMARCAL1, SP110, SRP54, STAT1, STAT4, STK4, TCF3, TCIRG1, TCN2, TERT, TFR2, TINF2, TNFAIP3, TNFRSF13B, TNFRSF13C, TRNT1, TTC37, UNC119, WAS, WIPF1, XRCC4, ZAP70, ZBTB24

Neutropenia

51 genes

ACKR1, ADA2, AP3B1, AP3D1, BLOC1S3, BTK, CD40LG, CDA, CLPB, CSF2RA, CSF3R, CTSC, CXCR4, DNAJC21, DNM2, EFL1, ELANE, FBXL4, FCGR3B, G6PC, G6PC3, GATA1, GATA2, GFI1, GINS1, HAX1, HPS5, ICOS, JAGN1, KRAS, LAMTOR2, LEF1, LYST, NRAS, PGM3, RAB27A, RAC2, SBDS, SLC37A4, SLC46A1, SMARCD2, STAT3, TAZ, TCIRG1, TCN2, UGT1A1, USB1, VPS13B, VPS45, WAS, WIPF1

Neutropenia congénita

24 genes

ACKR1, AP3B1, CSF3R, CXCR4, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, TAZ, TCIRG1, USB1, VPS13B, VPS45, WAS, WIPF1

Trombocitopenia

90 genes

ACTN1, ADAMTS13, ANKRD26, AP3B1, ARPC1B, C3, CASP10, CD36, CD46, CD81, CDC42, CFB, CFH, CFI, CTLA4, CYCS, DCLRE1C, DIAPH1, ERBB3, ETV6, FANCC, FANCE, FAS, FASLG, FCGR2A, FCGR2B, FLI1, FLNA, GATA1, GATA2, GBA, GFI1B, GP1BA, GP1BB, GP9, HOXA11, IFIH1, IKZF1, ITGA2, ITGA2B, ITGB3, JAK2, LRBA, LYST, MAD2L2, MASTL, MECOM, MPIG6B, MPL, MTOR, MYH9, NBEAL2, NBN, NHP2, NIPBL, PLAU, PRDX1, PRKACG, PSAP, PSMB8, PSMB9, PTPN11, PTPN22, PTPRJ, RBM8A, RUNX1, SAMD9, SCARB2, SLC19A2, SLC35A1, SLFN14, SRC, ST3GAL4, STAT1, STIM1, TBXAS1, TERT, TFRC, THBD, THPO, TNF, TREX1, TUBB1, UBE2T, VPS45, VWF, WAS, WFS1, WIPF1, ZBTB16

Trombofilias

35 genes

ADAMTS13, APOH, C3, CD46, CD55, F10, F11, F12, F13A1, F2, F5, F8, F9, FGA, FGB, FGG, GATA2, HABP2, HRG, JAK2, MTHFR, NOS3, PIGA, PLAT, PLG, PROC, PROCR, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, TFPI, THBD, VWF

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