SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02730884

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

A Phase II Single-Arm Study of the Efficacy and Safety of Oral Rigosertib in Patients With Myelofibrosis (MF) and Anemia

The goal of this clinical research study is to learn if rigosertib can help to control MF in patients with anemia. The safety of this drug will also be studied. This is an investigational study. Rigosertib is not FDA-approved or commercially available. It is currently being used for research purposes only. The study doctor can explain how the study drug is designed to work. Up to 35 participants will be enrolled in this study. All will be enrolled at MD Anderson.

NCT02730884 Leukemia Myelofibrosis Anemia Splenomegaly
MeSH:Anemia Primary Myelofibrosis Splenomegaly
HPO:Anemia Splenomegaly

2 Interventions

Name: Rigosertib

Description: Participants take 560 mg Rigosertib by mouth in the morning (two 280 mg capsules) and 560 mg Rigosertib in the afternoon.
Type: Drug
Group Labels: 1

Rigosertib

Name: Questionnaire

Description: Quality of life questionnaire completed on Day 1 of Cycle 1. It should take about 10-15 minutes to complete.
Type: Behavioral
Group Labels: 1

Rigosertib


Primary Outcomes

Description: Spleen response defined as ≥ 35% spleen volume reduction from Baseline, which must be confirmed by MRI or CT measurement per revised International Working Group for Myelofibrosis Research and Treatment (IWG MRT) response criteria.

Measure: Number of Participants With Spleen Volume Response

Time: Baseline and 48 weeks

Description: Anemia response defined as the proportion of transfusion-independent patients with Hgb increase of at least 2 g/dL from Baseline or the proportion of transfusion-dependent patients becoming transfusion independent for at least 12 weeks as defined in 2013 International Working Group for Myelofibrosis Research and Treatment (IWG-MRT) criteria.

Measure: Participants With Anemia Response

Time: Baseline and 48 weeks

Secondary Outcomes

Description: Symptoms response defined as the proportion of patients achieving ≥ 50% reduction in the Myeloproliferative Neoplasm Symptom Assessment Form Total Symptom Score (MPN-SAF TSS) at any time before Week 48.

Measure: Symptoms Response

Time: 48 weeks

Purpose: Treatment

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 V617F

Measurement of JAK2 V617F allele burden in Bone Marrow (BM) samples, if not done within 6 months prior to Screening, must be provided with the Screening BM biopsy/aspirate report (patients are eligible regardless of JAK2 mutation status); 3. Anemia or RBC-transfusion dependence defined as follows: a) Anemia: defined for the purpose of this protocol as 1) a hemoglobin level <10 g/L on every determination over 84 days before study-entry, without red blood cell (RBC)-transfusions, or 2) a hemoglobin level <10 g/L on a patient that is receiving RBC-transfusions periodically but not meeting criteria for transfusion-dependent patient as defined below. --- V617F ---



HPO Nodes


HPO:
HP:0001903: Anemia
Genes 774
LCAT KMT2D RPS7 TNFSF11 GSS PET100 COL7A1 GATA1 EPB41 TERT NHLRC2 NTRK1 FANCM RPS15A PTF1A NLRP3 MALT1 HPGD FMO3 SHPK PSAP TERT HBB RPL15 STK11 AK1 WAS SDHA TARS1 PKLR TTC7A HBA1 PHGDH RARA ALAS2 BRIP1 RPL26 FDX2 CD81 PNPO UROS SLC19A2 ATRX ERCC8 FANCG TET2 GP1BA TERC RPL35 CFHR1 SURF1 ALAD CASP10 EPHB4 ACTN4 LMBRD1 ABCB7 NOD2 CPOX TRNW VPS45 SPTB PHGDH PRKCD KCNE1 EPO FOXP1 TINF2 ADA2 PHKG2 CFI USB1 AMN NLRP3 SPTB NDUFAF6 STAT2 CR2 ACVRL1 AMMECR1 STX11 MEFV LIG4 THRA TSR2 RPL35 SBDS FANCL FAS TCIRG1 CALR SLC25A10 COX10 HBA1 SLC2A1 VPS33A HMGCL COX15 MDM4 SLC4A1 CTLA4 FLI1 MMADHC HBA2 TINF2 SCO2 CASK TFRC HBA2 EXT2 NLRP3 FANCF MTRR ND4 RPS19 STAT1 PLEKHM1 DGKE RPS28 RMRP IFT140 UQCRFS1 NPHP4 BMPR1A TRNN SLC19A3 BTK PSMB9 STIM1 UMPS SMAD4 ITGB3 FANCC SMAD4 ISCU STAT1 SNX10 TERT FANCI FAS NDUFS2 SCARB2 HBB MMAA GPX1 FARS2 GALNT2 CP ECHS1 SBDS RFXAP TTC7A RAG1 UROS TRNS2 NLRP1 RASGRP1 ATRX FANCA ABCD4 MARS1 RPS19 HBB ENG TYMP DHFR GPI LPIN2 KIF23 RPS24 NPM1 SLC2A1 TACO1 IFNG ANK1 AASS CTLA4 MMUT RPS29 KLF1 CFB UMPS MYSM1 ERBB3 NSUN2 FERMT1 DNAJC21 UROD HBA2 LYRM7 RPS10 ELANE WFS1 RPS26 EWSR1 PIGA ABCB6 HPRT1 FANCF HBG2 SLC29A3 THBD RAG2 SLC46A1 PGM3 MMUT FANCE COL7A1 PALB2 PNP IL12B MYSM1 SPTA1 ATRX FASLG COX4I2 RFXANK PIEZO1 EPB41 GBA ENG SPTA1 MPLKIP PARN LAMC2 RAG2 TPI1 FECH ALAS2 GNA14 FANCC CD59 PEPD RPL5 ZBTB24 IDH1 ATP7B CLCN7 GCLC IL2RB FARSA RPS10 STAT4 SPTA1 MLX KRAS KLF1 HBB TBCE BRCA2 SPTB RNF113A FASLG DNAJC19 GATB PNPO BRCA1 CISD2 GSS GDF2 HAVCR2 CFH STAT3 SRD5A3 NDUFA2 PRKAR1A IDH2 SNX10 COX3 CD3G NDUFV2 CTSK TREX1 ACVRL1 TFR2 MTTP NBN NRAS LPIN2 CLCN7 SLC12A3 ADA NDUFAF3 NDUFAF2 CFH CRIPT FANCB STAT3 HLA-B SLX4 CLCNKB SLC25A13 DNMT3B TCN2 RPL31 YARS2 RPS26 ORAI1 IRF2BP2 ASXL1 SAMD9 RPL5 RPS27 CD247 SURF1 RPS24 RPL35A FTCD TREX1 ASAH1 UBE2T SRP54 GBA DKC1 TCIRG1 ITGA2B LAMB3 MMAB HBB NFKB1 IRAK1 RECQL4 RPL27 DNAJC19 TALDO1 STEAP3 UNC13D LAMB3 NDUFS2 NFKB2 PHKA2 ANK1 HBD LAT HELLS PCCB MTHFD1 KCNN4 ERCC4 LARS2 OCRL DKC1 GATA1 POLG RHAG ADA2 BPGM TSR2 TET2 PML SARS2 MTRR BMPR1A GYPC HBA2 CP COL4A1 TBL1XR1 EFL1 TERC ATRX TF BMPR1A LIG4 PARN ATP7B PFKM REN DCLRE1C WFS1 FANCA ACAD8 NHP2 FANCB PRKCD PLA2G4A IL2RG OSTM1 PTH1R GCLC SMPD1 SLC4A1 RHAG WT1 LIPA RAG2 CLPX SDHC FCGR2A SMAD4 KDM6A BTNL2 IRX5 PSMB4 FANCG UBR1 ND6 MS4A1 G6PD GATA1 NPM1 ZBTB16 ERCC6L2 TINF2 COL7A1 BMPR1A RPS27 PUS1 IFNG KIT RRM2B LAMA3 IKZF1 ABCG8 LMBRD1 TF HBB HBG1 GALT GATA1 CASR RAD51C PRDX1 MUC1 PLEKHM1 MTR IGH CYBC1 ITGB4 FANCD2 RAG1 PRKACG EPB42 TCIRG1 COX1 FERMT3 MYD88 AGGF1 NPHP1 RPL11 NT5C3A RIPK1 KCNN4 MPL SLC40A1 SLX4 FOXP3 RPL27 CBL PPOX CA2 RPL11 GREM1 STAT5B STXBP2 GLRX5 TET2 SLC7A7 STK11 PCCA CD46 SMAD4 DAXX ABCB7 PACS2 RPS15A GLA HBA2 SF3B1 RPL15 TERT FANCD2 PTPN22 IL7R FECH SMARCAL1 HBB KIT G6PC3 TMEM67 DNAJC21 IL2RA CTC1 GSR SLC35C1 PNP SP110 EPB42 SLC4A1 NDUFA12 NBN TRNS1 FCGR2B TRNH RAG1 AGXT ACD TGFB1 ZAP70 C3 IFNGR1 SLC7A7 DNM1L NFKB1 LAMA3 RMRP HBB ND1 ABCA1 SLC19A2 TKFC STING1 RPS14 CASP10 TNFRSF13C RPS17 TBXAS1 RPL18 TRNQ MECOM PGK1 SBDS TNFSF11 PDGFRA CAT KIF15 ADA XRCC4 BCL10 TNFAIP3 PRF1 GBA SLC4A1 NUMA1 PDHA1 JAK2 TNFRSF11A GLA FANCL CD40LG LARS1 MMACHC SLC25A38 CUBN TMPRSS6 GBA MPIG6B SPP1 ELMO2 FOXP3 STIM1 RPL35A KIF1B SDHA TRNF TPP2 RAG1 NDUFV1 HMGCL HBB RPL18 SLC4A1 HBB-LCR ACP5 SPTB NDUFA13 MMP1 NDUFA4 ATRX PCNT PRKCD RPS7 RPL26 COG1 RMRP PIEZO1 PLEC ABCA1 NHEJ1 ABCD3 ANAPC1 SPTA1 FAM111A TNFSF12 DBH NDUFS3 LIPT1 RPS28 RAC2 SLCO2A1 SLC25A21 SDHB CHD7 NABP1 TNFRSF4 CFI PHF21A NPHP4 TRNT1 SRP54 HBB LYST HMOX1 APOA1 ADAMTS13 NDUFA10 GATA1 HSPA9 RPS17 GBA ENG PFKM FAM111A DDX41 CLCN7 YARS2 COL7A1 NDUFB8 RHAG NDUFS7 HYOU1 TNFSF12 TOR1A ZBTB20 SLC4A1 NDUFS8 ATP11C FANCE WIPF1 TGFB1 NDUFAF5 PSTPIP1 BCOR CAD SAMD9L TRNW MAD2L2 NPHP1 CD19 SURF1 TP53 LAMC2 SMARCD2 BRCA1 MPL PSMB8 GATC CCND1 CLCN7 MMACHC KRT14 ALDOA SRSF2 ALG8 NOP10 TRNS1 FOXRED1 OPA1 ETV6 HK1 TALDO1 ERCC2 COX2 COQ2 TEK STEAP3 TERC ALX4 RPS14 RTEL1 RASGRP1 HBB MAD2L2 GATA1 PGM3 CDCA7 PUS1 SEC23B SAMD9L HBA1 SLC46A1 MTFMT ICOS COL17A1 PIGT RFX5 DCLRE1C HBG2 CDAN1 IREB2 CDIN1 HBB TNFRSF13B F8 TET2 HAMP WAS F2 WRAP53 HBG1 NDUFS1 FAS TET2 KCNQ1 STIM1 ADAR PTEN SMARCAL1 SRD5A3 GTF2H5 TERT RUNX1 HPRT1 CIITA SLC11A2 PLEC BIRC3 SPTA1 EFL1 TBXAS1 RBM8A NLRC4 CFHR3 RAD51 PRF1 TRNT1 QRSL1 NDUFA9 HBA1 ALPL XRCC2 CBLIF GATA1 ITK ERCC6 PKLR FARSB TRNL1 CTC1 ANK1 LYST GBA ACVR1 PGK1 FIP1L1 ALAS2 RFWD3 ND5 APC DNASE1 CA2 HLA-B MMP1 NDUFS4 HLA-DRB1 AK2 CD55 DKC1 RPS29 SFXN4 HELLPAR LRBA GTF2E2 ERCC4 HBA1 UBE2T SEC61A1 ERCC3 RTEL1 COA8 CD46 VPS33A ITGB4 MVK
Protein Mutations 4
C282Y C677T H63D V617F
HP:0001744: Splenomegaly
Genes 494
PSMB4 GFI1B CLCN7 TNFSF11 GNE IGH PIEZO1 TREX1 MS4A1 USB1 G6PD CAVIN1 CASP8 ERCC6 EPB41 LBR IFNG NGLY1 ARVCF SH2B3 BMP2 ABCG8 NBEAL2 PIK3C2A RREB1 AKT1 HPGD SH2B3 HBG1 ATM IFT172 BTNL2 PEPD FMO3 TCF4 PTEN CASR ZAP70 GPC1 GALE GNPTAB PLEKHM1 CYBC1 RAG1 PKLR EPB42 HIRA GP1BB DYNC2LI1 SH2B3 ALAS2 TCIRG1 HSD3B7 BRAF CD81 TNFRSF13B FERMT3 SEC24C UROS PTEN FUCA1 HJV MYD88 ARSB ATRX CYBA TET2 RIPK1 KCNN4 GP1BA NLRP12 HFE GLIS3 PEX2 GNS FOXP3 MPL AP3B1 CBL APOC2 LPL CD28 PKHD1 CASP10 SUMF1 CA2 THPO CC2D2A NOD2 CCDC115 CPOX STXBP2 GLRX5 VPS45 TET2 SPTB ADAMTS3 PRKCD SLC7A7 TTC37 BCL2 INPPL1 TNFRSF13C SF3B1 AKR1D1 TNFRSF1B PHKG2 IL7R GPC4 USB1 NLRP3 CR2 FAH GBA G6PC3 STX11 BACH2 SH2D1A ERCC8 FAS IDUA GBA TCIRG1 CALR PIK3R1 RINT1 PNP COX10 TET2 SLC2A1 EPB42 VPS13A SLC4A1 SLC4A1 RAG1 MVK MCM4 CLDN1 PSAP TINF2 MAGT1 LMNA GATA2 MPL IFNGR1 CR2 CASK AGA NLRP3 SMPD1 APOE AP3D1 LACC1 LIPA CASP10 RMRP OTC TNFRSF13C TBXAS1 IRF8 PPARG C4A CALR CCND1 KCNH1 CYP7B1 DCDC2 ERCC8 SLC39A4 MEFV CCBE1 ADA LIPA PSMB9 PRF1 BCL6 SKIV2L GBA SLC4A1 GBA SNX10 JAK2 TNFRSF11A SUMF1 GUSB CD40LG F5 MIF GUSB NPC1 FAS SCARB2 HBB GBA MPIG6B NCF2 MAN2B1 HLA-DRB1 NOTCH2 CTLA4 TPP2 NPC2 SCYL1 ALMS1 IDUA HBB GPC3 XIAP RAG1 UROS SPTB PTEN NLRP1 AGPAT2 DNASE1L3 RASGRP1 COG7 IDUA COG4 PRKCD IL12A-AS1 PIEZO1 PEX7 GPI LCAT PSAP ABCA1 NPM1 ABCD3 THPO ANK1 CTLA4 IL12A DGUOK MMUT TNFSF12 KLF1 UMPS PHYH PIGM SLCO2A1 ERBB3 LYZ IDS CHD7 TNFRSF4 B2M HBB ALPK1 LYST MKS1 HBA2 CD19 APOA1 CCDC47 GATA1 CPOX IDUA GPD1 GBA APOE HBG2 RAG2 CLCN7 KCNN3 GBA JMJD1C MPL SLC30A10 TBX1 OCLN AKT1 TNFSF12 JAK2 ATP8B1 JAK2 IL10 TBX1 AKR1D1 SLC4A1 NCF4 FASLG COX4I2 PIEZO1 EPB41 PDGFRA TGFB1 CTNS GBA NOTCH1 NCF2 TNFRSF1B SPTA1 DDRGK1 NBEAL2 TPI1 PEPD IL6 CD19 NCF1 IL2RB SMPD1 NEU1 MPL PSMB8 IL7R RNASEH2A FAH GAA CCND1 SPTA1 PKHD1 KRAS KLF1 MST1 ALDOA IDS SRSF2 SPTB FASLG NOP10 SOX10 COG6 ASAH1 HAVCR2 HLA-DRB1 CALR HK1 CYBB BSCL2 ATP6AP1 PTPRC IL23R ABCA1 GPIHBP1 SNX10 RTEL1 CYBA GPC3 RASGRP1 GNPTAB IDUA CTSK HBB CASR IGH CYBB JAK2 NRAS ICOS LPIN2 DCDC2 CLCN7 DOLK GATA1 NEU1 ADA ABCB11 PIK3CA SEC23B SAMD9L ICOS CARD11 GLB1 DCLRE1C TLR4 JAK2 NCF1 CYBC1 CDAN1 FGA RPGRIP1L PHKG2 KCNH1 MEFV CDIN1 MVK ITCH HBB BCR TNFRSF13B LMNA TET2 HAMP ASXL1 WRAP53 FAS UFD1 TP53 SLC29A3 TNFRSF1A GBA MEFV JAK2 DGUOK STAT4 HGSNAT ERCC6 APOA1 HBB NFKB1 IL1RN IFIH1 TERT RUNX1 FAT4 ALG1 ABCB4 TALDO1 STEAP3 CCR1 UBAC2 RNU4ATAC HFE NFKB2 PIK3CD WDR35 PHKA2 CD27 ANK1 LAT IDS FAS NLRC4 KCNN4 CTLA4 TRNT1 DZIP1L HBA1 CAV1 GATA1 ITK CALR ERAP1 PKLR RAB27A WDR1 NAGLU CD28 RHAG CTC1 ADA2 BPGM ANK1 JAK2 LYST GBA TMEM67 GYPC HBA2 JAK2 GPC4 ICOS KLRC4 TERC DDRGK1 CFAP410 DPM1 LIG4 PARN MPL INPP5E HSD3B7 ATP7B HLA-DRB1 DKC1 DCLRE1C ABL1 LRBA CYP7B1 NHP2 SGSH GPR35 RUNX1 COMT PRKCD HBA1 ATP6V1B2 IL2RG OSTM1 SLC17A5 SMPD1 SH2B3 DHCR24 RHAG LIPA TMEM67 RAG2 VPS33A XIAP HLA-B TET2 BTD MVK
SNP 0