



Hematología

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