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Report for Clinical Trial NCT01972529

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Randomized, Global, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Once-daily Oral Avatrombopag for the Treatment of Adults With Thrombocytopenia Associated With Liver Disease Prior to an Elective Procedure

This is a global, multicenter, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag to treat adults with thrombocytopenia associated with liver disease. The study will evaluate avatrombopag in the treatment of thrombocytopenia associated with liver disease prior to an elective procedure to reduce the need for platelet transfusions or any rescue procedure for bleeding due to procedural and post-procedural bleeding complications. Participants will be enrolled into 2 cohorts according to mean baseline platelet count and, within each baseline platelet count cohort will be further stratified by risk of bleeding associated with the elective procedure (low, moderate, or high) and hepatocellular carcinoma (HCC) status (Yes or No).

NCT01972529 Thrombocytopenia Associated With Liver Disease
MeSH:Liver Diseases Thrombocytopenia
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

4 Interventions

Name: avatrombopag (lower baseline platelet count)

Description: 60 mg avatrombopag (3 x 20 mg tablets)
Type: Drug
Group Labels: 1

Group A (avatrombopag, lower baseline platelet count)

Name: placebo (lower baseline platelet count)

Description: 60 mg placebo (3 x 20 mg matching placebo tablets)
Type: Drug
Group Labels: 1

Group B (placebo, lower baseline platelet count)

Name: avatrombopag (higher baseline platelet count)

Description: 40 mg avatrombopag (2 x 20 mg tablets)
Type: Drug
Group Labels: 2

Group C (avatrombopag, higher baseline pl Group C (avatrombopag, higher baseline platelet count)

Name: placebo (higher baseline platelet count)

Description: 40 mg placebo (2 x 20 mg matching placebo tablets)
Type: Drug
Group Labels: 1

Group D (placebo, higher baseline platelet count)


Primary Outcomes

Description: Responders were defined as participants who did not require a platelet transfusion or any rescue procedure for bleeding after randomization and up to 7 days following a scheduled procedure. Participants with missing information due to early withdrawal or other reasons were conservatively considered as having received a transfusion in the analysis, (i.e. a Non-responder).

Measure: Percentage of Participants Who Did Not Require a Platelet Transfusion or Any Rescue Procedure for Bleeding After Randomization Following a Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days following a scheduled procedure

Secondary Outcomes

Description: Responders were defined as participants who achieved a platelet count greater than or equal to 50 x 10^9/L on the procedure day. Participants with missing a platelet count on the procedure day were conservatively considered as not achieving a platelet count of 50x10^9/L in the analysis, (i.e. Non-responders).

Measure: Percentage of Participants Who Achieved a Platelet Count Greater Than or Equal to 50 x 10^9/L on the Scheduled Procedure Day

Time: Day 10 to Day 13 (Visit 4)

Description: Last observation carried forward was used for participants with a missing platelet count on the scheduled procedure day. Platelet count was measured preprocedure and before any platelet transfusion.

Measure: Change From Baseline in Platelet Count on the Scheduled Procedure Day

Time: Baseline (Visit 2) to Procedure Day 10 to Day 13 (Visit 4)

Other Outcomes

Description: The severity of bleeding events was assessed by the investigator (or appropriately delegated study site personnel) using the WHO bleeding scale. The WHO bleeding scale is a clinical investigator-assessed five-point scale with Grade 0 = No bleeding, Grade 1 = Petechial bleeding, Grade 2 = Mild blood loss (clinically significant), Grade 3 = Gross blood loss (requires transfusion (severe)), and Grade 4 = Debilitating blood loss, retinal or cerebral associated with fatality. Participants with missing information are considered as having a WHO bleeding score greater than or equal to 2 in the analysis.

Measure: Percentage of Participants With a World Health Organization (WHO) Bleeding Score Greater Than or Equal to 2 After a Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days post scheduled procedure

Description: Safety assessments consisted of monitoring and recording all adverse events (AEs) and serious adverse events, including platelet transfusion-related complications; routine laboratory evaluation for hematology, serum chemistry, and urine values; periodic measurement of vital signs and electrocardiograms (ECGs); the performance of physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. Treatment-emergent adverse events (TEAEs) were defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. Treatment-related AEs were considered by the investigator to be possibly or probably related to study drug.

Measure: Number of Participants Experiencing an Adverse Event

Time: From date of first dose of study drug up to 30 days after the last dose of study drug, up to approximately 3 years

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 G20210A

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency, etc.) 18. Participants with a history of significant cardiovascular disease (eg, congestive heart failure New York Heart Association Grade III/IV, arrhythmia known to increase the risk of thromboembolic events [eg, atrial fibrillation], coronary artery stent placement, angioplasty, and coronary artery bypass grafting) 19. --- G20210A ---



HPO Nodes


HPO:
HP:0001392: Abnormality of the liver
Genes 1390
SRD5A3 WHCR CSPP1 ATP7A IL2RG MYORG NR1H4 IL17RC PEX1 B9D1 CD40LG TCF4 INSR SKIV2L RRM2B TTC37 HPD PEX11B NEU1 DOCK6 RBPJ CLEC7A RNF43 PSAP HNF1B HSD3B7 VPS33A LIPT1 EFL1 SDHC CEP290 TGFB1 CHD7 TINF2 FOXP3 PRKCD ALG6 CR2 C11ORF95 PTPN3 LACC1 ABCB11 KRT8 PLEKHM1 SETBP1 CASK PEX10 PKLR HADHA GBA TINF2 SLC4A1 AGA HADHA RPS20 IL7R TCIRG1 FLI1 GLIS3 CFI UQCRC2 IL17RA DNASE1L3 TRNK MRPL3 LCAT MPV17 TBX1 PEX11B TMEM70 KLF1 INS HBB NDUFS1 KMT2E HFE FASTKD2 ALG9 CTRC KRT18 SOS1 EIF2AK3 WDR35 PYGL FASLG CORIN BSCL2 ALG8 CD81 TNFSF12 RHAG FAN1 NCF2 LMNB2 ACADM H19 FBP1 GNE TNFRSF1B ND3 RMRP XRCC2 PC SLC29A3 ACOX1 COG8 RHAG SLC30A10 CDKN2B TJP2 COX6B1 SMPD1 SPTB WDR60 CBS RPGRIP1 SRD5A3 RPGRIP1L MLH1 ATP8B1 TRIM37 TMEM67 NHP2 SLC11A2 INPP5E NFKB1 CDKN1A HADHA CA2 ACSF3 H19 POLD1 AP1S1 F5 LYRM4 SLC2A1 KRT6B PCK1 POLG2 SEC24C HNRNPA1 DHDDS ALG13 AKT2 APOA1 B3GLCT GBA MPC1 KRT16 TET2 LDLRAP1 SLCO2A1 ACVRL1 KCNH1 PIGS APC TMEM67 USP9X CAV1 IFT122 TNFSF11 LRPPRC POMC BBIP1 B9D2 PEPD ACAT1 LMNA SPTA1 ACVRL1 GATA6 LPL DIS3L2 GNPTAB PHKG2 TNFRSF1A IDUA KRIT1 SLC25A13 BMP2 GPI SNX10 AKR1D1 BBS1 MED25 APC MAN2B1 MTRR ALAS2 ERCC4 PEX14 PNPLA2 PIEZO1 MVK PEX16 BRCA2 BCS1L SBDS TUFM VPS13A IFT140 SDCCAG8 GBA AMACR PFKM HFE PTPN11 APC INSR NPC1 CTNS TSFM PEX5 IFT172 BRCA1 IFT80 ERCC4 SLC25A13 RFWD3 PSMB4 HBA2 WDR19 ALDOA ELN ATP8B1 JAK2 MPI SMPD1 HMBS TBX1 ABCA1 ICOS UROD DCTN4 DKC1 LIG4 NBAS PEX3 TRNE ACADVL SDHA GPC3 TREX1 PEX10 CAV1 MYC HADHB HGSNAT GBA MMUT PEX26 RAB27A PEX12 PMM2 RREB1 RPGRIP1L CLDN1 MPL UQCRB MRPS16 UGT1A1 WDPCP FANCC HJV PEX13 CARS2 AP1B1 GYS2 PROP1 MRPS7 PEX2 PEPD G6PC MCM4 MMUT COG4 ABCC2 PEX26 HLA-DRB1 PPARG NDUFS7 NPHP1 VIPAS39 ABHD5 SBDS PIGA APOA1 GP1BB EFL1 VCP SLC17A5 COX4I2 GPD1 GPC3 CA2 DDRGK1 NDUFAF1 COG5 PHKA2 TWNK PHKG2 KRAS CYBC1 USP18 TMEM231 SP110 PEX1 CIDEC EOGT MSH2 IL2RB SLC39A8 MEFV TANGO2 FERMT3 ATP7B PDGFRL ATM TTC21B TERT HMGCS2 HOXD13 ENG MYH9 CEL LONP1 FGA SLCO1B3 CYP27A1 MIF DPAGT1 TERT TF CLCN7 TMEM107 CD247 NDUFA6 TRAF3IP2 DNAJC19 APOB SMPD1 CEP290 PRDM16 STK11 ND2 LETM1 ITCH LPIN2 PEX6 CASR SLCO1B1 POLG TPP2 IFT172 ZAP70 CNTNAP2 SKI H19 CYP19A1 ABCG8 PKHD1 CC2D2A CTCF GCGR CD96 PIK3CA GAA PSAP LHX1 PEX2 UBE2T PSAP ND4 PEX6 SLC29A3 TACO1 RNASEH2B POLG2 ZMPSTE24 RELA TMEM67 PCK2 POMC CD79B LBR SRP54 AKR1D1 SLC39A4 SC5D RPGRIP1L PLPBP SPTA1 RERE NKX2-5 NDUFS4 FAH CC2D2A COX20 GATA6 TERT TRAPPC11 ARSA HBA1 FANCL RFX5 PEX14 HNF1A FUCA1 OCLN DCDC2 TPI1 GUCY2D PSAP NSD2 PIK3C2A STAT6 CEP19 TERC SF3B1 NDUFS6 COG6 ACADL HADH RRAS POU2AF1 NOD2 CLIP2 NDUFV1 ERCC8 PEX5 HBB NPHP3 CAVIN1 PSMB9 RFXAP TCF3 NRXN1 FECH CP GFM1 GYPC CTSC SLCO1B3 CD28 NOTCH2 GNS HAMP CDAN1 CEP120 C1QBP ADAR CEP290 POLG2 HBG2 TIMMDC1 PARN EIF2AK3 RHAG ALDOB TNFRSF13C IL21R TRMT10C RFXANK BMPR1A STX11 CD27 CASP8 DHCR7 SGSH SLC25A19 HNF1A CSPP1 BBS12 RFT1 NLRP3 USB1 TRIP13 TMEM67 IDUA PMS1 CPT2 SLC25A20 RFXAP ADA HSD3B7 RAG2 WDR35 RMRP PCSK1 PRSS1 KCNQ1 FDX2 NDUFS8 CEP290 ND1 CCDC115 NGLY1 LMNA WDR60 FANCA MSH6 TMPRSS6 POU6F2 IL2RG NCF1 NSD2 STEAP3 INTU ADAMTSL2 SON PIK3CA FANCM LDLR KCNJ11 CLDN1 DLD TNFSF11 ABCA1 PIEZO1 ARHGAP31 RBM8A SLC13A5 NOTCH2 PEX6 EPCAM MEN1 KRAS TRIM32 PEX14 DUOX2 PDGFRB HBB UBR1 PEX13 RAG1 ABCC2 CIDEC TBX19 SDHA APC ARL6 XIAP RASGRP1 TCIRG1 SMAD4 NHLRC2 ALG1 BRCA2 POU1F1 ND5 DLL4 NDUFB11 TNFRSF11A HLA-B GTF2I EPB42 CTRC SLC22A5 PEX1 IL2RA RNU4ATAC SLC37A4 BCS1L BCHE KCNJ11 LMNA TFR2 TREX1 GUSB BTNL2 TRAF3IP1 SLX4 TNFRSF13B CYBA UGT1A1 DNAJB11 KCNN3 DKC1 PEX3 VPS45 APOE SCO1 GPR35 TBX1 CR2 ATP6 PRKCD JAK2 CTNNB1 HESX1 NPHP1 LMNA APOE FANCI LYST TET2 PEX13 TP53 NUBPL TRAF3IP1 CCDC47 PDX1 TANGO2 TTC8 LYST AP1B1 RNASEH2A MUC5B IL17F SERPINA1 PEX6 FAN1 PKLR NPHP3 C1S NPHP4 FBN1 UGT1A1 KRT18 CYP7B1 CIITA GPC3 HADH HJV KPTN XYLT1 PEX16 CYP7B1 APC UGT1A1 CPT1A BBS5 PALLD CTC1 NSMCE2 FADD TTC7A BCS1L FARSB DDRGK1 NPHP3 IFNGR1 CFTR PEX16 XRCC4 FGFR2 HNF4A MPV17 GALT SLC25A1 ACADM ALG9 KLF11 MLH3 CLCN7 IGLL1 UGT1A1 CLPB GBA TALDO1 KRT8 BTD ARSA PLAGL1 HK1 ALG2 DPM2 C8ORF37 DMD SLC40A1 SLC26A4 G6PD GALK1 AGPAT2 PEX5 PDGFRA SLC40A1 IL2RG IYD KLF1 WT1 BBS10 ATP7A RNASEH2C SRP54 ABCC8 PEX13 DYNC2H1 SLC20A2 ESCO2 GPC4 PAX8 CLCA4 C4B PCCB COG8 ABCB4 XK TNFSF15 APPL1 HEXB CPT2 PEX6 XPR1 CTSA IER3IP1 ACOX1 B2M TNFRSF1B YARS2 DCLRE1C HYMAI SCARB2 CD70 BSCL2 AHCY LYZ SPINK1 SOX10 IDUA ABCC8 GABRD WT1 FASLG ERCC6 FOXF1 STOX1 TBX19 CTBP1 DPM1 ATP8B1 PEX12 BSCL2 ENG UCP2 PKD2 RNU4ATAC FGFR2 SCYL1 COG7 DAXX MST1 PSMB8 BLVRA GPIHBP1 HADHA NELFA SURF1 TNFSF12 GPC4 SMAD4 PEX19 GNAS TRMU COX10 ALAS2 NAGA DOLK PEX2 NHP2 MCCC1 TRIM28 DHFR DNAJC21 CTSK SETBP1 PEX3 WDR19 NAB2 DPM3 RECQL4 MVK RFT1 LZTR1 G6PC3 ANK1 CDKN1C STN1 KRAS PALB2 SEMA4A EPB42 UFD1 NHP2 LIPE RIT1 RNASEH2A DCDC2 FGFRL1 HNRNPA2B1 STEAP3 PARS2 DNAJC21 LHX3 TG DCLRE1C HMGCL DIS3L2 FOS VPS33B TMEM199 BRCA2 RBCK1 HELLPAR NFKB2 CASR LMNA NOP10 SFTPA2 XRCC4 PAX4 JMJD1C RAF1 CD46 PALB2 RAG2 DGUOK COX8A ND3 CFTR FANCE ICOS RMND1 RFX6 NDUFS7 IL12A LIG4 KIF23 SCYL1 NDUFS2 HLA-DRB1 FAS NCF1 ARSB MKS1 SLC25A20 RAD51 EWSR1 ALMS1 GALE PEX26 TSC1 MMAA SLC4A1 KRT17 PAX8 ABCA1 PEX19 ZIC3 ADA2 EPB41 SERPINA1 CFTR NPHP3 MOGS FBP1 FANCD2 LBR TNPO3 SLC25A4 ATP11C LRP5 TSHR NEK1 CCND1 MET VHL ABCG8 IDUA TRMU WDR34 ABCB4 SPECC1L ERCC4 DYNC2H1 MKS1 GLB1 ASAH1 ATP6V1B2 SLC25A13 NEUROG3 ND1 TCIRG1 HSD17B4 CDKN1B LRP5 STK11 IL1RN COG1 NRAS ND6 GBA BTK AMACR ETFA ND2 PPARG FLT1 COMT DGUOK CD19 PRPS1 GBA HADHB POU1F1 DLD MKKS SEC63 TRMT5 TGFBR2 GBA HMGCL SLC4A1 HBB TRNS1 MRPL44 DDOST PCCA ABCB4 LIPA ABCD3 LIPE GATA2 BTK REST SUMF1 FUCA1 PEX3 AGGF1 PEX14 RAG1 UROS ANKS6 KCNN4 SDHD PTEN TREX1 TSHB APOC2 SLC2A1 GLB1 CDKN1B CPA1 ASL HMBS IL36RN KIT INPPL1 HYOU1 TRIM37 HPGD ELN PEX19 TGFB1 CBS CYP27A1 RAG2 TGFB1 PSAP MMUT COX10 COX15 KCNN4 CYBB HMOX1 H19-ICR NDUFA11 PLIN1 DYNC2LI1 NDUFAF2 TERC MAD2L2 NDUFB9 MSH6 KRAS CD3E FOXRED1 CD19 HBG2 TRNV PCCA HNF1A KIT WRAP53 GCLC C8ORF37 COX14 ACAD9 GNMT TREX1 ATP6AP1 RFC2 HNF4A CD3D SLC25A13 PEX12 TMEM67 TERC CTLA4 TRNN CDKN2A LMNA BCS1L IDS MET IL7R CDKN2C TSHR PLIN1 PET100 GPC1 CPT1A HNF1B NLRC4 BRCA1 PEX3 DPM3 JAM3 GNPTAB TRNW DLL4 JAK3 IFT140 MICOS13 DNAJC19 PNPLA2 PRF1 NAGA CEP55 SC5D PIGM PMM2 GALT BBS7 HLA-DRB1 ITK PRKCD NDUFAF4 BBS2 LIPA NGLY1 IDUA HAVCR2 IQCB1 MFN2 NOS3 SUMF1 BBS9 NDUFAF1 MYBPC3 SLC30A10 PEX26 PEX10 EPB41 KCNAB2 ACADVL GUSB CPT2 AGPAT2 HBB POLG ETFDH NRAS PEX16 GLRX5 LRRC8A COA8 OSTM1 LIMK1 NLRP3 TBL2 LZTFL1 FH CPOX CEP164 PNPLA6 SLC37A4 SPTB ABCB11 TWNK SFTPC ALDH7A1 INPP5E HBA1 ATPAF2 SHPK ICOS SLCO1B1 FCGR2A SPRTN FBXL4 MARS1 ALG11 TMEM67 KIAA0586 CPT2 IL7R NDUFS3 RASA2 ACAD9 AUH TKT ATP7B NSMCE2 RHBDF2 OFD1 CLCN7 IFIH1 JAK2 WT1 DZIP1L HIRA DPM2 PRKCSH GNE NCF2 SLC25A19 ARSA TFAM COX15 COG2 CEP83 SNX14 KCNH1 NEK8 BBS1 NDUFAF3 PSAP CD79A BRIP1 SEC63 ADAMTS13 ANTXR1 IGF2 FANCF PDGFRA BLNK ALG8 WDR19 PEX10 TMEM126B TPO TALDO1 FAS PDGFB CLCN7 DHCR7 BMPER IFT172 PCCB TP53 CTLA4 SDCCAG8 GCK NOTCH1 PTRH2 ADA NCF4 SLC35A2 SMAD4 STAT1 TTC37 GDF2 TMEM165 IL12RB1 RFXANK IRF5 NDUFAF5 TNFRSF13B PEX12 TRAPPC11 INVS CALR TRHR SPINK1 CD28 MECP2 SEC23B AGL ABCG8 CIITA WDR19 HBG1 GALNS OFD1 TMEM216 CC2D2A ABHD5 PEX2 LARS1 TTC21B GCDH RPGRIP1L STX1A IGF2R IGF2 BTK LIPA TRNL1 MKS1 COG2 SLC25A15 PKD1 CC2D2A TNFRSF13C SLC4A1 SP110 CASP10 ATRX PKHD1 PRKCSH HNF1B SKIV2L SOS2 KRT6A PIK3R1 TARS2 RRAS2 RTEL1 POLG TCTN2 CD55 GBE1 CCDC28B PRKAR1A SLC7A7 CYTB IFT27 NPC2 BSCL2 NDUFB10 COG4 SDHB SAA1 AP3D1 ITCH SLC5A5 PRSS1 SAR1B PEX11B RAG1 GDF2 ALMS1 F5 PMS2 COA8 GBA HBB TSC2 CASP10 CASR EXTL3 LETM1 NDUFS4 HAMP DYNC2LI1 TRIM28 PHKB PSMB8 RAD51C AKT2 ARVCF SH2D1A DUOXA2 ZAP70 LHX4 C15ORF41 RNU4ATAC POLR3A HNF4A AGA RNASEH2C TYMP IFT172 MYD88 JAG1 APOE LTBP3 ASAH1 NPM1 COG6 IKZF1 PHKA2 SLC7A7 CYBA HFE GLB1 NLRP1 CBL RFX5 MS4A1 HNF4A BBS4 ARSA NAGLU BTNL2 FAM111B PLEKHM1 DMPK AIRE BPGM MLXIPL FANCG EARS2 WDR35 SAMHD1 PGM1 AP1S1 AXIN1 LMNA ALDOB ADK PRSS2 KCNQ1OT1 HBA2 CAVIN1 BLK SNX10 PPARG RRM2B CYP7A1 IFT80 BAZ1B CTLA4 FAH SLC25A15 NEUROD1 PEX1 NDUFV2 PEX5 SLC22A5 MLH1 FANCB WDR34 CPLX1 IARS1 WDPCP EXTL3 TMEM216 TERT BOLA3 XIAP MYRF CTNNB1 CYBB SPTB GANAB NPHP3 NAGS CYC1 TTC7A NOP10 MSH2 APC UNC13D TRNW JAK2 MMEL1 MMAB IGHM MPI IFT43 MRAS NDUFB3 PCSK9 FAS STXBP2 ANK1 CFH PTPRC LBR SPIB VPS33A IL6 TET2 ASS1 NDUFA1 FECH ABCG5 MPL GTF2IRD1 PEX12 AP3B1 IFIH1 ETFB PEX19 PEX1 PRKAR1A ERBB3 A2ML1
Protein Mutations 4
C282Y G20210A H63D I148M
HP:0002910: Elevated hepatic transaminase
Genes 272
SRD5A3 CSPP1 RNASEH2C SRP54 MICOS13 PNPLA2 DNAJC19 PMM2 COG8 NR1H4 ABCB4 PRKCD NGLY1 CPT2 TCF4 IER3IP1 YARS2 RRM2B NOS3 POLG CNTNAP2 SLC30A10 BSCL2 AHCY SPINK1 HNF1B HSD3B7 LIPT1 AGPAT2 STOX1 CC2D2A POLG GLRX5 DPM1 LHX1 FOXP3 ALG6 CR2 RNASEH2B COG7 SLC37A4 POLG2 DAXX MST1 TWNK PSMB8 TMEM67 HADHA TNFSF12 CFI AKR1D1 SC5D UQCRC2 GNAS FBXL4 TRMU ALAS2 MARS1 ALG11 KIAA0586 DOLK CPT2 MRPL3 FAH MPV17 ACAD9 TRAPPC11 ATP7B NSMCE2 OCLN OFD1 IFIH1 DPM3 DPM2 CTRC TFAM COG2 EIF2AK3 KRAS PALB2 PYGL CORIN BSCL2 CD81 TNFSF12 RNASEH2A DCDC2 FAN1 ACADM CAVIN1 FBP1 DNAJC21 GNE PSMB9 FOS NRXN1 VPS33B TMEM199 RBCK1 ACOX1 HELLPAR NFKB2 COG8 SLC30A10 HAMP CBS CD46 C1QBP DGUOK SRD5A3 RPGRIP1L ADAR POLG2 SLC35A2 ATP8B1 GDF2 TMEM165 TNFRSF13C TRMT10C TNFRSF13B ICOS INPP5E TRAPPC11 NFKB1 KIF23 ACSF3 AGL POLD1 TMEM67 SLC25A20 CPT2 SLC25A20 ABHD5 HSD3B7 F5 LARS1 WDR35 PRSS1 POLG2 DHDDS CCDC115 NGLY1 ADA2 SLC25A15 LBR CC2D2A SLC25A4 STEAP3 ATRX HNF1B POLG DLD ABCB4 ERCC4 COG4 HSD17B4 PHKG2 SAR1B RAG1 SLC25A13 BMP2 AKR1D1 ALMS1 HBB SMAD4 FLT1 ALAS2 HADHB HAMP PNPLA2 MVK DLD PEX16 BRCA2 HLA-B VPS13A SLC22A5 AMACR HMGCL BCS1L IFT172 HNF4A RNASEH2C TYMP MRPL44 SLC25A13 TFR2 JAG1 DDOST TREX1 ABCB4 PSMB4 ABCD3 COG6 IKZF1 PHKA2 SLC7A7 HFE JAK2 MS4A1 NBAS GPR35 ACADVL SDHD TREX1 ASL CAV1 SAMHD1 TP53 PGM1 PEX19 RAG2 PMM2 ALDOB TANGO2 ADK CAVIN1 RPGRIP1L MRPS16 PPARG RNASEH2A RRM2B SERPINA1 PEX13 GYS2 SLC22A5 CYP7B1 HADH IARS1 HJV CYP7B1 CPT1A G6PC PALLD COG4 CD19 VIPAS39 HNF1A SBDS C8ORF37 CYC1 ACAD9 GNMT GPD1 FARSB TREX1 ATP6AP1 HNF4A SLC25A13 COG5 PHKA2 TWNK PHKG2 CDKN2A MPV17 USP18 ACADM SP110 CFH CLPB TANGO2 GPC1 CPT1A ATM HNF1B DPM2 BRCA1 MYH9 DMD DPM3 AGPAT2 DPAGT1
Protein Mutations 0
SNP 0
HP:0001873: Thrombocytopenia
Genes 412
CTC1 TBXAS1 RNASEH2C SRP54 MYORG SLC20A2 TET2 MYH9 HLCS CD40LG ERCC6L2 XPR1 CFI IVD SCARB2 UBE2T MPL DOCK6 RBPJ VPS33A EFL1 FASLG STOX1 OCRL TINF2 FOXP3 PRKCD CR2 IRAK1 FCGR2C GBA ACTN1 TINF2 PSMB8 NHEJ1 IL7R TNFSF12 CFI TINF2 LAT NHP2 TBX1 DHFR TERT DNAJC21 VWF SAMHD1 G6PC3 MECOM UROS FASLG CORIN UFD1 GP9 SBDS NHP2 MYSM1 CD81 TNFSF12 CFH RNASEH2A LRBA ARHGEF1 DNAJC21 ITGA2B DCLRE1C XRCC2 HELLPAR NFKB2 NOP10 JMJD1C CD46 PALB2 RAG2 DGUOK FCGR2A WAS POMP KDM6A FANCE ABL1 NHP2 ICOS NFKB1 FCGR2B CA2 HLA-DRB1 FAS RAD51 MMAA STAT3 SEC24C STT3B C1R GBA AGK FANCD2 TET2 VWF RTEL1 ITGB3 ANKRD11 CDC42 TERT FANCC IFNG IRF2BP2 PEPD GUCY1A1 SPATA5 GBA ACD BCOR RUNX1 FLT1 COMT ACP5 GBA ERCC4 MVK CFB SBDS WAS NFKB1 NFKB2 GBA GP1BB MMACHC CDC42 MAP2K1 GATA1 BRCA1 PARN STIM1 RFWD3 KIF15 PCCA PSMB4 DNASE1 TET2 BRAF GATA2 ABCA1 ZBTB16 NUMA1 TINF2 DKC1 ITGB3 UROS TREX1 SALL4 HYOU1 STAT5B GBA MMUT C1QA RAG2 TERC MMUT JAK2 FANCB RREB1 FANCA MPL HOXA11 SLC35A1 ELANE FANCC CD46 SLFN14 MAD2L2 KRAS FOXP3 RUNX1 MMUT CD19 SARS2 SBDS WRAP53 ACAD9 GP1BB EFL1 GFI1B NABP1 TREX1 FARS2 SLC19A2 WIPF1 TERC DKC1 NSUN2 ETV6 NBN USP18 PTPN11 WAS STAT3 SP110 SRC PRF1 EOGT RARA SALL4 HLCS C3 CD109 MYH9 TERT TNFAIP3 MECOM PRF1 SC5D ITGA2 ITK SMPD1 PRKCD ABCD4 FLI1 ATRX NOS3 GATA1 NPM1 TPP2 COL4A5 ANKRD26 MTOR TCN2 TUBB1 PRDX1 WFS1 NRAS PRKAR1A OSTM1 SLC46A1 DGKE FIP1L1 MYSM1 HPS5 UBE2T RNASEH2B PML TBL1XR1 SRP54 SMARCAL1 GNA14 ACAD9 FANCE ESCO2 FANCL RFX5 ATP7B OCLN IFIH1 JAK2 MPIG6B HIRA PSAP LIG4 PHGDH SLC35A1 TERC FANCG SF3B1 KMT2D BRIP1 SLC19A2 ADAMTS13 BCR GATA1 NBN FANCF PSMB9 ALG8 GP9 CD36 TALDO1 FAS PDGFB CLCN7 PCCB CD81 NOTCH1 STIM1 ADAR LMBRD1 STAT1 FYB1 PARN TMEM165 RFXANK TNFRSF13C TNFRSF13B STX11 GALC CALR PNP USB1 CIITA RFXAP ADA FLNA COG1 BTK FANCA NBEAL2 CASP10 FANCM RTEL1 SLC46A1 TNFSF11 ARHGAP31 RBM8A ITGA2B CTLA4 SLC7A7 GFI1B RBM8A COG4 LBR PDGFRB RAG1 SAMD9L RAG1 FANCD2 GBA TFRC RASGRP1 CASP10 GP1BB BRCA2 PNP DLL4 TNFRSF11A STAT4 RAD51C HLA-B ARVCF SH2D1A SMARCD2 LARS2 ZAP70 PTPN22 SMARCAL1 RNASEH2C TREX1 SAMD9 BTNL2 APOE SLX4 NPM1 GATA1 COG6 IKZF1 SLC7A7 DKC1 ARPC1B MS4A1 VPS45 CFHR1 RPS19 PLAU TBX1 PRKCD BLOC1S6 GATA1 FANCG APOE FANCI LYST SAMHD1 TET2 STT3B LIG4 SCARB2 CFHR3 DIAPH1 LYST SNX10 RNASEH2A FLI1 CTLA4 FANCB GP1BB TERT GATA1 PRKACG XIAP SPP1 NBEAL2 CTC1 NOP10 GP1BA MMAB GP1BA FAS CFH VPS33A HOXA11 TALDO1 NIPBL GP1BA MPL MAD2L2 CYCS AP3B1 IFIH1 GP1BA THBD SPATA5 TERT ERBB3 WIPF1
Protein Mutations 2
G20210A V617F
SNP 0