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) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (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) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) 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) 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) NCT01282151 (3) NCT03058094 (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) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (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) NCT00834665 (2) NCT00969137 (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) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (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) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (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) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (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) 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) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (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) 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) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (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) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (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) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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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) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (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) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


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 Associ 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: 1

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 1396
SNX10 RNASEH2A ND4 GALE MMUT PEX5 NDUFS6 LPIN2 GUCY2D RNASEH2C AXIN1 COG4 GNPTAB LIMK1 HLA-DRB1 LIPA SPTB LBR CD247 PDGFRA RHBDF2 SOS2 HBB ABCD3 COX15 TSHR GP1BB ASS1 IRAK4 FANCI SLC30A10 CLEC7A IL2RG EXTL3 SLC25A19 NSD2 SEC24C ZIC3 DAXX POMC NELFA NPHP3 NPC1 TNFSF15 PIGA APOE HJV COG2 TNFRSF1A DHFR PEX11B PEX11B RINT1 BLK ABCG8 ABCG8 LZTR1 NSD2 TRAF3IP1 UNC13D GPC1 GANAB KCNH1 RNU4ATAC TTC21B INPPL1 PIEZO1 GPR35 TMEM67 JAK2 MET PEX10 EIF2AK3 PRF1 GPI RAD51 ERCC4 MYC CTLA4 LBR FCGR2A PRKCD LYST BTD IL21R NEUROD1 MLH3 BMPER GCDH NSD1 GLB1 LTBP3 ATP8B1 UQCRB CYBA LMNA FANCL ERCC6 SF3B1 NDUFA1 PRPS1 CAVIN1 TERC AGL MECP2 TCF4 NAGLU GUSB DLD NAGA PET100 RNU4ATAC PTPN11 IL12RB1 NEK1 PDX1 UGT1A1 PKLR TMEM67 HBA1 LZTFL1 NRAS BCS1L PLPBP MAN2B1 ARSA HJV TREX1 FBP1 SPTA1 HGSNAT SLC2A1 RASGRP1 LYST TKT IDUA XIAP TSFM DNAJC21 WDR19 BICC1 HNF1A LETM1 TTC8 GBA NCF1 WDPCP MCM4 CD70 SOS1 IL2RB PEX19 WRAP53 PIGM ACADM POU1F1 TMEM70 PEX3 UQCRFS1 PEX1 TNFRSF13C PEX13 G6PD AP1B1 HNF4A SBDS ABCC2 RERE CD40LG ICOS PDGFRB UGT1A1 FANCM FASLG DMPK MPV17 FOXP3 MEFV PEX19 COX14 HBA2 TGFBR2 CIITA UBR1 NR1H4 IARS1 PIEZO1 CYTB ENG PLEKHM1 ATAD3A STAT6 FLT1 NEU1 HBB IDUA MSH6 LMNA CAV1 MRPL44 NOP10 PSAP JAG1 TACO1 GBE1 MET GNPTAB MYBPC3 FANCG HYOU1 APC GALM MKS1 POLG BBS2 LACC1 DNAJB11 ACOX1 DYNC2H1 H19-ICR KCNN4 KIF20A NDUFS7 ARHGAP31 MTRR PEX2 RFT1 IL7R RAF1 GPD1 CYP27A1 ETFA HPD PTPN3 ALG8 MST1 PIK3CA TRNV ADAMTSL2 PEX14 TMEM165 TCIRG1 NDUFA6 HNF1A VCP RNASEH2C SP110 RBM8A TIMMDC1 HFE CIDEC BCS1L SDHD CLDN1 CD55 TET2 TTC37 LPL CLDN1 PEPD SC5D MAGT1 RFX5 OFD1 PALB2 PSMB4 SKIV2L SON HMBS TRNW FGFR2 APOB AP3D1 PEX6 MMEL1 IGF2R RRM2B TNFRSF1B REST SC5D CTCF RAC2 CTLA4 TRHR EFL1 CIITA SLC25A13 AP3B1 GPC3 B9D2 KCNQ1 PEX16 AGA PKHD1 NEUROG3 ZAP70 NDUFB11 BBS10 DUOXA2 FOXP3 HNF1B POMC COG5 VIPAS39 PCSK9 SPIB TRMU FANCB ANKS6 XK OSTM1 KRAS HEXB SEC63 SCNN1G POLG INS ACADVL DCTN4 CDKN1C DKC1 TNFRSF13B TBX19 HAVCR2 DGUOK TSHB EPB42 ATP7B BOLA3 PLIN1 LDLRAP1 PRKCD SLC25A4 C1S APC DHCR7 KRAS SFTPC SLC22A5 HSD17B4 LYZ ANK1 VPS33B CASR WDR35 STK11 MAN2B1 CTNNB1 DDRGK1 SPINK1 IL2RG SPTB HFE DYNC2H1 TMEM216 TREX1 CYP27A1 CBS IFT122 ACAT1 NDUFB3 HOXD13 COA3 CD96 WT1 STAT1 MUC5B MRPS7 BBIP1 SMAD4 SLC4A1 HBG1 ABCG8 MED25 CHD7 PEX10 TERT MVK COG1 COG4 HAMP IFT27 LMNA GBA RREB1 CDAN1 NDUFS7 IDUA RAD51C CTSK DLL4 KLF1 SEC23B FUCA1 PDGFRA TBX1 CEP164 FLNC DPAGT1 JAK2 ALG1 NCF4 DYNC2I2 TPI1 RFXAP PEX12 GPIHBP1 GDF2 CASP8 MFN2 PTRH2 MAN2B1 COX20 PEX26 MMUT LRPPRC TRAF3IP2 PEX3 CEP290 RELA FANCD2 PYGL CR2 APPL1 VPS45 RMND1 GALNS RRM2B TRIM32 APC KRT8 RFC2 ABHD5 CTLA4 NCF1 CD3D STEAP3 PMM2 HNF1B IFT172 SMAD4 CLCN7 ND1 SGSH SERPINA1 HBG2 TFAM CDKN2A IL18BP PTRH2 NDUFS3 TRNS1 SPTB CTSA NDUFAF2 IL17F WDPCP TMEM67 LRRC8A CPT2 NAGS BRIP1 FLI1 CLCN7 XRCC4 IGLL1 MPV17 PEX19 PRKCD PEX12 SLC7A7 NCKAP1L ABHD5 HNF1A HLA-DRB1 SLCO2A1 FAH XIAP CEP83 DKC1 TMEM67 PEX14 NDUFAF4 CYBB CD3E EPCAM VHL DGUOK TTC7A BMP2 TNNI3 EOGT ABCB4 PHKA2 CBL NEU1 MYD88 NPM1 ACADL SLC20A2 SMAD4 MMAB POLG2 MTTP RRAS PSAP TMEM216 CASK ACAD9 PTEN CEP290 CPT1A ADA AIRE PHKG2 POLG2 GAA FANCC CARS2 IFIH1 COA8 PSAP TERT DHCR7 PEX1 PEX12 FBP1 SLCO1B1 UBE2T TSC2 ARSB COG6 RASA2 RHAG APOE CC2D2A EPB42 COX10 CPT2 TTC7A INSR BTK LMNA SKI APOA1 GPC3 RPS20 PLAGL1 PALLD NDUFS1 RUNX1 LYRM4 INTU WT1 DYNC2LI1 MKS1 COMT HYMAI NLRP3 PRKCSH TP53 ASAH1 SBDS ACVRL1 MVK MPL PAX8 LRP5 CLCN7 BBS1 RIPK1 PCSK1 STXBP2 NFKB2 KCNQ1OT1 NDUFAF8 PEX2 DCDC2 SLC25A15 ATP11C HADHA PHKA2 CPOX POU2AF1 IL1RN PSAP CCDC28B PEX12 SNX10 RHAG TGFB1 ABCC8 PEX6 HADH FOXF1 TNFRSF13B TRAPPC11 ALDH7A1 PHKG2 GDF2 CLCN7 SP110 HBG2 CC2D2A NDUFAF5 APC2 HAMP FANCA TNFRSF1B CTNS ARSA PMM2 COX15 UGT1A1 PPOX NLRP1 EARS2 PKHD1 CEP290 ACP5 IL12A KRT18 TRIM37 PEX26 EPB41 PEX6 SLC4A1 TRNW HFE IFT140 HNRNPA2B1 ABCA1 DDRGK1 TREX1 RPGRIP1L TRNK EPB41 ATP7A MSH6 INPP5E TALDO1 CYP7B1 FECH SRP54 TINF2 ATP6AP1 SHPK ATP7B PC CPOX ARL6 IDUA BCS1L RMRP NDUFAF1 PEX6 DUOX2 FGFR2 BSCL2 PSTPIP1 SCNN1B TRIM28 AKR1D1 DOCK6 AP1B1 USB1 IGF2 H19-ICR COX4I2 HIRA TNFSF12 PIK3R1 AKR1D1 PHKB IER3IP1 JAM2 F5 TTC21B TFR2 LIG4 IL7R ABCG5 NHLRC2 CTNNB1 SLC25A13 ALDOB RMRP ACADVL CDKN1B LIPA IFNGR1 SDHB PPARG ENG HLA-DRB1 IQCB1 CASP10 GLIS3 CA2 PSAP PEX11B NOTCH2 DPM2 CD81 ACADM SDCCAG8 PRKAR1A FECH DLL4 COX10 ERCC8 USP18 SLCO1B1 PPARG SDHC GBA LIG4 HADHA ALG13 TYMP KMT2E TMEM199 HMGCS2 KCNJ11 MLXIPL ADK NOTCH2 BLVRA SLC37A4 BBS12 PEX5 DYNC2I1 CPLX1 NPHP1 PCK2 ABCC8 NPHP3 LRP5 CYBB KRT18 WDR35 ERCC8 DYNC2I2 KRAS NKX2-5 SLX4 TUFM PEX13 PKD1 XRCC4 TRIP13 GPC3 RPGRIP1L WDR19 JAM3 BBS7 ELN CFTR CEL DIS3L2 SLC29A3 SLC44A1 KLF1 PKD2 NPHP3 TRNL1 IL17RA JMJD1C IARS1 VPS33A UFD1 FADD TNFSF11 DIS3L2 AGA TSHR RAG1 BRCA2 SLC25A20 EIF2AK3 APC GTF2I ABCB11 CNOT1 MCCC1 ALG9 FAN1 KIF3B NDUFA11 APOE G6PC SLC26A4 RAB27A MSH2 TG CYP7B1 EWSR1 ATP6 SPRTN WDR19 TNFSF11 HK1 IGHM LMNA ERCC4 MOGS HNF4A TBX1 CD79A CFTR TMEM67 LHX3 INPP5E MYORG PEX2 ITK MPI CALR NPHP3 MMAA SLC40A1 VPS33A SLC5A5 SCO1 RPGRIP1L BBS9 APC SPECC1L PEX2 TTC37 TET2 BTK SETBP1 SCNN1A IL7R ASL GFM1 CFTR AP1S1 HBB PSMB8 TINF2 CD28 DHDDS FANCE LMNB2 ANTXR1 GPC4 CD19 ND6 CP ARL6 KIT RFX6 CPT1A ALMS1 INVS B3GLCT TRNE CPOX ITCH MPI PEX26 NSMCE2 RBCK1 TWNK IDUA APOC2 NDUFAF3 NDUFS4 SAA1 HBA2 BCHE NPHP1 AP1S1 NBAS ABCB11 SERPINA1 FH RAG2 TMEM107 MRAS CASR PNPLA6 DPM1 IFIH1 ZAP70 ND3 SCYL1 MYRF GNAS GYPC ND1 BRCA2 RFXANK TARS2 DYNC2LI1 ABCB4 LETM1 GBA HBB GATA6 TMEM126B GBA BRCA1 PSMB9 NDUFAF1 PEX3 ATPAF2 ATP7A F5 TSC1 PCCB FAS NHP2 SLC13A5 GALK1 COX6B1 ALDOA ETFDH G6PC3 MS4A1 HBB CD19 TCIRG1 EXTL3 HNF4A GUSB LBR GNE NGLY1 SLC25A19 PCCA RRAS2 DDOST KIT PEX1 NPHP4 RAG1 ALMS1 PDGFB LIPA TRAPPC11 C4B TRAF3IP1 UGT1A1 SPTA1 ASAH1 PEX12 MPL OCLN KRAS ADAMTS13 DCDC2 LMNA MIF SUMF1 CYBC1 ABCA1 POU1F1 SLC11A2 BBS5 FAH STX11 JAK3 PEX6 TMEM67 SPTB SLC2A1 POLR3A IRF5 CA2 MKKS LIPE RAG2 NAB2 ABCB4 HMGCL BTK ERCC6 RNASEH2B ANK1 NEU1 BTNL2 NOP10 ALAS2 CSPP1 CPT2 ND2 CBS PEPD TERT MARS1 SDCCAG8 TCF3 ERCC8 ICOS PRSS2 KCNN4 GCLC ACVRL1 NUBPL LIPE SAMHD1 SLC40A1 TGFB1 STN1 IGF2 KPTN ADA AUH TPP2 CCDC47 KLF11 FARSB UCP2 GPC4 IL36RN PKD1 PEX14 TNFSF12 RPGRIP1 SURF1 C1QBP RASGRP1 PEX16 CLPB HPGD ATP6AP2 FERMT3 SDHA RBPJ ND3 DCLRE1C PEX1 TRMT5 TRMU MLH1 GLB1 LCAT AGPAT2 BTNL2 TRNN GNMT B2M MRPL3 PSAP TNNT2 DNAJC21 FOS HSD3B7 COG7 CAV1 PCCA SLCO1B3 IFT80 CTSC USP9X SFTPA2 AKT2 ABCA1 CYP7A1 SDHA TNFRSF13C JAK1 HMBS SLC4A1 CAVIN1 GANAB SCARB2 GBA PARS2 RNF43 BSCL2 TCIRG1 KCNN3 SETD2 NDUFV1 PNPLA2 CYP19A1 ATP6V1B2 HMOX1 PKLR C11ORF95 IFT172 IFT140 TJP2 BMPR1A ARVCF NFKB1 PMS1 PEX16 ALDOB CLIP2 C8ORF37 MSH2 PYGL MKS1 RHAG PIGS FANCF KCNJ11 JAK2 ATRX CIDEC RECQL4 NCF2 PRKCSH CD28 LARS1 CASR BAZ1B FUCA1 HNRNPA1 CPA1 SLC25A20 NDUFS2 KRIT1 ADAR WHCR LHX4 ATP8B1 ATP8B1 JAK2 SLC25A1 FASLG HBA1 PEX26 WDR19 GATA2 ETFB IL6 STOX1 ICOS ARSA TMEM231 LDLR XRCC2 DNASE1L3 TET2 CLCA4 STX1A AGGF1 HESX1 MRPS28 ARG1 PLEKHM1 POU6F2 SLC39A8 IFT172 TKFC TALDO1 IL17RC SAR1B ASXL1 TRIM28 TCTN2 CD79B NHP2 AMACR ALG2 FBN1 SLC25A13 INSR NRAS NPC2 GALT POLD1 PKD2 BLNK CORIN RAG2 NDUFS8 PFKM NLRP3 FOXRED1 AHCY CEP290 SLC22A5 DOLK SMPD1 IFT80 HADHB SLC4A1 STEAP3 PARN PAX4 NDUFB10 PEX13 NDUFS4 PRSS1 TP53 PIK3C2A COX8A NAGA HBB GABRD GBA DNAJC19 APC BRCA1 KCNAB2 SNX14 ACOX1 NOTCH1 H19 TRIM37 AMACR UROD ABCC2 ND5 NCF2 CR2 TNPO3 SRP54 SCYL1 RFXANK PEX16 IL2RA POLG2 IL2RG HADH ERCC6 CYBC1 SMPD1 FGA HSD3B7 SLC30A10 CC2D2A TREX1 WDR35 SLC25A13 PRKAR1A TMPRSS6 SRSF2 NPHP3 RIT1 SH2D1A PEX3 GATA6 GLRX5 PIK3CA CCDC115 PROP1 HNF4A CTC1 GNE FAS ACAD9 RNASEH2A CD27 DYNC2I1 NDUFV2 TBX1 RFX5 DCLRE1C BSCL2 MPC1 BBS1 PALB2 GTF2IRD1 PEX14 SLC25A15 FADD APOA1 IYD AKT2 COG6 TERC CBL SLC39A4 AGPAT2 NOD2 SLC29A3 ADA2 PLIN1 BCS1L GBA CC2D2A BSCL2 IFT43 SOX10 ESCO2 SPOP SEMA4A PEX1 SLC37A4 RPGRIP1L VPS13A NGLY1 TF CYBA MAD2L2 NHP2 FAS SEC63 COG8 FDX2 TNFRSF11A CDIN1 SLCO1B3 RFWD3 DZIP1L CCND1 ERCC8 PEX19 XPR1 FAM111B RTEL1 PEX3 CTRC PEX5 TPO KRT8 TERC MYPN CTBP1 MLH1 IFNG ITCH YARS2 PNPLA2 BRCA2 ERCC4 TGFB1 BBS4 FGFRL1 RFXAP SUMF1 ERCC1 GCGR RAG1 SMPD1 ND2 POLG TBX19 UROS ALG8 ELN HADHA PCCB CEP19 A2ML1 SETBP1 TET2 BPGM PEX10 PAX8 MMUT MVK TERT PTPRC SLC17A5 NEK8 CEP120 ALG9 ARSA TBL2 ERCC6 STK11 SLC7A7 NDUFB9 LONP1 RFT1 WT1 ERBB3 SKIV2L PDGFRL CEP55 KCNH1 CPT2 DMPK PEX10 UGT1A1 PEX5 XYLT1 DLD NSMCE2 HMGCL GLB1 PMS2 COA8 PCK1 DNAJC19 B9D1 PGM1 GALT PPARG CASP10 PRDM16 IDS RNU4ATAC EFL1 GCK GNS GBA
HP:0002910: Elevated hepatic transaminase
Genes 288
VPS33B TRMU RNASEH2A CFH GNMT MRPL3 FAN1 DPM2 DNAJC21 RNASEH2C CD81 HSD3B7 COG7 ALG11 COG4 ACADM ERCC8 USP18 LBR ABCD3 TYMP CAVIN1 SLC30A10 TMEM199 ADK DPM3 NRXN1 SLC37A4 BSCL2 DAXX COG4 HAMP PNPLA2 NFKB1 RINT1 KRAS OFD1 FBXL4 PYGL DPAGT1 GPC1 ATRX RPGRIP1L KIAA0586 IFT172 LARS1 MYH9 ATM SLC25A20 GPR35 GYS2 ADAR C8ORF37 PYGL PRF1 ATP8B1 JAK2 IARS1 RRM2B STOX1 RAG1 ICOS MRPS16 PRKCD SLC25A20 PMM2 EIF2AK3 HNF1B SMAD4 TFAM TANGO2 CDKN2A MRPS28 IL18BP G6PC AGL CYP7B1 TCF4 DLD ACSF3 SLC35A2 TKFC ERCC4 SAR1B TMEM67 MPV17 INPP5E TMEM67 SLC25A13 ERCC4 SRD5A3 HJV POLD1 TREX1 FBP1 UQCRC2 ABHD5 HADHB HNF1A CORIN CD46 LYST FAH AHCY SLC22A5 ASL DOLK DNAJC21 DGUOK PEX13 ALAS2 BMP2 PSMB8 DHDDS ABCB4 PHKA2 STEAP3 ACADM SRP54 HLA-B TP53 TRMT10C TNFRSF13C CPT1A ALMS1 HNF4A DNAJC19 POLG2 SBDS MTTP BCAT2 ACAD9 CPT1A RBCK1 TWNK PHKG2 POLG2 MPV17 FOXP3 DPM3 AMACR NBAS CR2 IKZF1 SERPINA1 NR1H4 IARS1 SRP54 PEX16 SUCLG1 POLG2 ERCC6 FLT1 HSD3B7 CC2D2A SLC30A10 CPT2 DPM1 TREX1 IFIH1 MRPL44 WDR35 SLC25A13 JAG1 PALLD BRCA2 GLRX5 ABCB4 DMD CCDC115 HNF4A ACAD9 RNASEH2A ASAH1 POLG BRCA1 SBDS ACOX1 PALB2 PSMB9 MVK NOS3 F5 SLC25A15 GPD1 MS4A1 NFKB2 DCDC2 CD19 COG6 PHKA2 GNE NGLY1 AGPAT2 COG8 MST1 ADA2 DDOST CYC1 HADH CC2D2A TMEM165 TNFRSF13B TRAPPC11 PHKG2 GDF2 RNASEH2C ALMS1 SP110 HFE BCS1L TRAPPC11 SDHD VPS13A NGLY1 TWNK HAMP PMM2 PEPD OCLN PPOX HELLPAR COG8 CSPP1 PSMB4 ERCC8 CNTNAP2 SRD5A3 PEX19 COG2 HNF1B RRM2B TREX1 RPGRIP1L SC5D YARS2 PNPLA2 RAG2 CYP7B1 ABCB4 HMGCL EFL1 SLC25A13 SRP54 ATP6AP1 POLG RNASEH2B ATP7B HNF1B COG5 VIPAS39 ALAS2 KIF23 CPT2 LIPT1 CBS TANGO2 MARS1 MICOS13 HADHA CFI POLG AKR1D1 ACADVL SAMHD1 ERCC6 SLC7A7 TNFSF12 AKR1D1 IER3IP1 TFR2 CPT2 FARSB DMPK DLD NSMCE2 ALDOB ALG6 PGM1 TNFSF12 SLC25A4 C1QBP LHX1 CLPB DPM2 ATP6AP2 SLC22A5 HSD17B4
Protein Mutations 0
SNP 0
HP:0001873: Thrombocytopenia
Genes 445
DKC1 RBM8A IVD CDC42 RPS19 RNASEH2A MMUT RNASEH2C CD81 COG4 NABP1 GATA1 NUMA1 DLL4 TERC USP18 VWF FANCB FCGR2B GBA GP1BB FANCI FANCC SEC24C NBEAL2 DHFR TINF2 SMARCD2 GATA1 SLX4 MPIG6B KMT2D SMARCAL1 OCRL PRF1 ETV6 JAK2 PRF1 RAD51 JMJD1C VPS33A UFD1 STAT5B GFI1B ERCC4 GP1BA RAG1 PRKCD MAD2L2 SPATA5 LYST HOXA11 FANCG WAS FANCL SF3B1 APOE GNA14 TNFSF11 ITGB3 GATA1 MYORG NRAS ACP5 FIP1L1 ITK BRAF MECOM COL4A5 SLC35A1 CALR MMAA SLC46A1 VPS33A RASGRP1 LYST ANKRD26 HOXA11 XIAP RPL15 DNAJC21 NBN RPL35A GBA RTEL1 PSMB8 RPS15A TINF2 FANCE FCGR2A UROS WRAP53 BCR HLA-B UQCRFS1 TNFRSF13C ARHGEF1 RPL26 SBDS GATA1 CD40LG PDGFRB RPS27 IFNG FANCM FASLG SMARCAL1 ATRX CFHR3 TNFAIP3 FOXP3 MECOM SLC19A2 GP1BA DNASE1 NIPBL FLT1 HLCS PARN MAP2K1 SCARB2 IFIH1 ANKRD11 NOP10 ZAP70 ITGB3 STT3B FANCG ITGA2 HYOU1 GBA SLC19A2 PSMB9 RPS19 PLAU FAS CFB NHP2 ARHGAP31 G6PC3 MS4A1 CD19 FLI1 SRC LMBRD1 CYCS SAMD9 GALC PRKACG PRDX1 HPS5 POMP TMEM165 MMACHC RNASEH2C RBM8A PDGFB DIAPH1 ITGA2B RUNX1 TET2 FANCD2 TBL1XR1 STT3B NFKB2 MPL PEPD OCLN SC5D HELLPAR ADAMTS13 THBD RFX5 STAT2 PALB2 PSMB4 LAT STX11 IRAK1 CD109 ABCD4 LIG4 MTOR CA2 WARS2 RAG2 CTLA4 TERT EFL1 CIITA AP3B1 MYSM1 SARS2 BTK GATA1 RNASEH2B CFHR1 GP1BA BTNL2 FOXP3 NOP10 TBXAS1 RPS29 TET2 FANCB OSTM1 TSR2 RPL11 TCN2 SAMHD1 GP1BB DKC1 TPP2 NSUN2 C3 RRAS2 TERT TNFSF12 PRKCD STIM1 RASGRP1 PTPN22 STIM1 CTC1 KRAS RPS26 RBPJ NHEJ1 LIG4 ZBTB16 CFH DNAJC21 GATA1 SAMHD1 PCCA CDC42 RPL5 ESCO2 STAT1 ADA2 SCARB2 TERT GP9 STAT4 GBA RREB1 RAD51C GP1BA ARVCF NFKB1 UBE2T TBX1 LRBA FANCF RFXAP MYH9 CFH GFI1B ADAR MMUT FLNA GP9 FANCD2 VPS45 FASLG AGK GATA2 STOX1 ICOS BLOC1S6 ERCC6L2 KIF15 XRCC2 TET2 CLCN7 WAS GUCY1A1 RPS7 SPP1 NBEAL2 BRIP1 TALDO1 FCGR2C LBR PTPN11 ACTN1 KDM6A PRKCD NHP2 SLC7A7 JAK2 MYSM1 CORIN CD46 RAG2 DKC1 SPATA5 VWF BCOR SMPD1 DGUOK RARA NLRC4 EOGT FARS2 PARN COG1 FYB1 HLCS NPM1 FANCF SLC20A2 MMAB GBA DGKE ACAD9 BRCA1 ADA SLFN14 FANCC NOTCH1 WFS1 IFIH1 PSAP CR2 IKZF1 UBE2T SRP54 RFXANK MPL SLC35A1 STAT3 RPL27 WDR1 APOE TREX1 PNP ABL1 STAT3 SH2D1A WIPF1 GATA1 MYH9 RPS24 RPL35 CTC1 RPS17 FAS ACAD9 RNASEH2A COMT TBX1 DCLRE1C ASAH1 SBDS CFI MVK NOS3 TET2 NFKB2 COG6 TERC PHGDH FLI1 CD36 SNX10 SAMD9L GP1BB ITGA2B GBA TNFRSF13B ARPC1B LARS2 SP110 FANCA MAD2L2 SBDS PNP PKHD1 NHP2 FAS MPL ACP5 TNFRSF11A RFWD3 FANCE TERT DZIP1L TFRC RPL31 CD81 XPR1 RTEL1 TUBB1 RPL18 PRKAR1A FANCA TERC NFKB1 ABCA1 TREX1 ELANE NPM1 TALDO1 BRCA2 IRF2BP2 SRP54 TINF2 PML RAG1 TREX1 UROS ALG8 ATP7B PCCB WAS MMUT TERT RPS10 CFI RUNX1 SALL4 DOCK6 SLC46A1 CD46 USB1 SLC7A7 HIRA TNFSF12 JAM2 ERBB3 TINF2 IL7R ACD RPS28 WIPF1 CASP10 CTLA4 GP1BB SALL4 EFL1 NBN GBA HLA-DRB1 CASP10
Protein Mutations 2
G20210A V617F
SNP 0