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 NCT01429597

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

Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation An Internationa,Multicenter, Epidemiological Study

Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.

NCT01429597 Cerebrovascular Accid Cerebrovascular Accident Stroke, Acute Cerebral Stroke
MeSH:Stroke Fabry Disease Cardiomyopathies
HPO:Angiokeratoma corporis diffusum Cardiomyopathy Stroke


Primary Outcomes

Measure: analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients

Time: 24 month

Time Perspective: Prospective

Cohort


There are 3 SNPs

SNPs


1 A143T

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H --- --- A143T ---


2 N215S

Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation An Internationa,Multicenter, Epidemiological Study. --- N215S ---

Fabry and Cardiomyopathy (FaCard) Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients. --- N215S ---

analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients. --- N215S ---

Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Cerebrovascular Accid Cerebrovascular Accident Stroke, Acute Cerebral Stroke Stroke Fabry Disease Cardiomyopathies Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. --- N215S ---

Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Cerebrovascular Accid Cerebrovascular Accident Stroke, Acute Cerebral Stroke Stroke Fabry Disease Cardiomyopathies Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. --- N215S --- --- N215S ---

Summarizing, newborn screening identified a surprisingly high frequency of Taiwanese males with Fabry disease (approximately 1 in 1,250), 86% having the IVS4+919G>A mutation previously found in later-onset cardiac phenotype patients.The late-onset mutation N215S is discussed to be a so-called cardiac variant (Perry Elliott, 2006; Eng et al., 1993, Sachdev et al., 2002). --- N215S ---

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H --- --- A143T --- --- N215S ---

concluded that Gb3 is not an ideal biomarker using the example of N215S. --- N215S ---

Furthermore, he had mild congestive heart failure, a reduced left ventricular ejection fraction, and hypercholesterolemia. Thus, it is obvious that in Fabry patients with the N215S mutation disease progression can be mono- to oligosymptomatic, but show a tendency for the cardiac and renal phenotype rather than classical manifestation. --- N215S ---


3 R112H

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H ---



HPO Nodes


HPO:
Protein Mutations 4
A143T D313Y N215S R112H
SNP 0
HP:0001638: Cardiomyopathy
Genes 753
DSP UBR1 TRNK DSP PET100 ND6 CSRP3 TOP3A PEX3 NDUFS4 PEX6 COL7A1 TREX1 ACTN2 BAG3 PSEN1 ACADS LMNA NDUFAF4 AHCY MYBPC3 WARS2 GTF2IRD1 EPG5 DOLK GSN INSR ERCC6 POMGNT1 TTN COL7A1 SDHA CAVIN1 D2HGDH SLC25A4 ATP6V1A LAMA3 FANCM FKRP DSG2 ND1 ITPA BMP2 DSG2 TTR NBAS NDUFA2 HADHA GAA POLG TMEM43 LMNA ACTA1 LMNA PRKAG2 MYL3 SYNE1 ABCC9 PPCS RAD51C FKRP FHL1 GNPTAB CLIP2 COA5 JUP LAMA4 TAZ ANKRD11 SDHA TPM1 TARS1 NF1 RAF1 BAG3 SLC25A4 BRIP1 MYOZ2 DES TKFC PMM2 CRYAB NRAS TPM2 BRAF EMD COX1 SCO2 TXNRD2 FIG4 ELN DSG2 HJV SLC19A2 TCAP TWNK EYA4 ARSB FANCG NDUFV2 NDUFAF5 HFE DLD TERT GNS SLC40A1 SURF1 USP9X SHOC2 ND4 POLG SLC25A20 NDUFS8 MLYCD CHKB TTR TPM2 SPEG LAMP2 SDHAF1 MYH6 TXNRD2 SHOC2 KRAS XYLT1 HAMP SUFU TRNW NEB ADCY5 MRAP PIGT FHL1 PTPN11 POMT2 PSEN2 BCS1L TPM2 MRPS22 NDUFB11 PCCA RNU4ATAC GLA CLN3 RAF1 HSD17B10 TNNT2 GNE MYBPC3 MTO1 ATP5F1D FANCD2 GATA5 FKTN MAP2K2 AGL JUP GPC4 MYOCD H19-ICR TRNV NAGA RMND1 TMEM70 NDUFAF6 FAH MEFV ACAD8 PYGM NDUFB10 MAP3K20 POMT1 FKTN NF1 CSRP3 ERCC8 GYS1 FANCL KRAS MAP2K2 NDUFB11 SLC25A4 ENPP1 NDUFA11 NDUFS3 GSN MYOT HJV ACADVL HRAS CAP2 MRPL3 COX10 TAPT1 EPB42 VPS33A VPS13A LDB3 NAGA XYLT2 MYH6 COX15 NDUFA12 HRAS XK TTN SLC25A20 TRNS1 TRNH PTPN11 SDHA TPM1 AGPAT2 TREX1 SCO2 LMNA AIP STAR ND2 ND5 IFIH1 DES FHL1 USP8 LMNA FANCF ND1 ACADVL BRCC3 ND4 LAMA4 LDB3 TKFC FOXRED1 MICOS13 PCCB KIF20A GTPBP3 TMEM126A UQCRFS1 GPR101 PPARG MYH7 TRNQ ATP5MK ATP6 PLN PCCA TCAP KCNH1 TRNN SLC19A3 MYLK2 PEX13 NDUFB11 FLAD1 RBCK1 HNRNPA2B1 MYL2 RNASEH2B TRNE FIG4 XRCC4 COA6 NDUFAF8 AHCY ATPAF2 ND3 ACAD9 TRNK LAMA2 SLC4A1 PDHA1 GUSB ADCY5 FBXL4 MMACHC BRAF HADHB DES FANCI NUP107 SLC22A5 NDUFS2 GMPPB HACD1 HBB HADH MYBPC3 NEXN TTN SELENON ABCC6 TAZ TNNT2 MRPS14 TRNF LMNA ALMS1 VCP CDKN1C ECHS1 IDUA KANSL1 NDUFV1 HMGCL MIB1 LAMP2 ABCC9 GPC3 DTNA NDUFS2 PEX14 RNASEH2A TRNS2 SPTB TIMMDC1 AGPAT2 RBM20 SGCB NDUFA13 LMNA NDUFA4 TGFB3 ND1 FANCA DLD IDUA GATAD1 VCL PTPN11 MYH7 RMRP TTN TNNC1 NNT NPPA PEX7 ABHD5 NDUFAF3 MYPN KCNQ1OT1 MGME1 EPG5 TNNI3 ATP5F1E NDUFS4 SLC25A3 TACO1 DSP ANK1 ANKRD1 SYNE2 PPP1CB MMUT POLG2 POLG JPH2 PEX7 ACTA1 NDUFS3 PHYH LIPT1 PHYH FASTKD2 MYSM1 TRNL1 IDS MYH7 PLN MC2R BSCL2 ATAD3A LIMS2 CRYAB ACTC1 TNNT2 JUP CAV1 BRAF SGCD RTL1 FXN SCN5A NDUFA11 TSFM INSR TNNT2 NDUFB9 WFS1 NDUFA10 ND2 PEX7 PMM2 PPA2 CDH23 TTPA EYA4 KAT6B DPM3 CRYAB YARS2 SLC2A10 NDUFS8 NDUFB8 SMC1A TNNC1 SLC30A10 CPT2 NDUFS7 NDUFS6 PALB2 TRNK POMT1 GMPPB IL12B FKTN VCL COQ4 TBL2 PIGT RRM2B SYNE2 FLNC NDUFS8 FANCE SDHD PDGFRA HCCS HCCS TGFB1 DCAF8 PNPLA2 POMT1 LMNA NDUFAF5 NDUFB11 MPLKIP PLN RFC2 GYG1 LAMC2 SDHB RNASEH1 NDUFS1 GATA4 RNASEH2C MYH6 LMNA KLHL41 FANCC PYGL RRM2B LMNA LIMK1 DMD NDUFA10 FLNC DSP SDHAF1 MYO18B GTPBP3 NEB POMK TPM3 SDHA TWNK TRNT SURF1 NDUFAF1 ATAD3A RIT1 BRCA1 NDUFA6 TANGO2 GATC MYH6 SGCD ACTC1 TMPO NDUFS2 FKTN SPTA1 MLX VAC14 DMD ND3 HAND2 KLF1 TAZ ANKS6 BRCA2 FOXRED1 TPM3 NUP107 IDS MYOT RNF113A BRAF RAF1 FKRP TNNI3K PEX16 FXN TRNS1 TNNT2 FOXRED1 TRIP4 DNAJC19 MAP2K1 CISD2 CPT2 PRDM16 POLG PRKAG2 FLNC NDUFS7 MRPL44 MYPN NDUFA1 ITGA7 NUBPL ERCC2 TAF1A RAB3GAP2 TK2 BSCL2 PPCS COX15 COX2 COQ2 NDUFA2 TNNI3 HADHA NF1 DES ACTN2 ACTA1 TNNC1 DSP NDUFB3 COX3 PEX12 TNNI3 TMEM126B GPC3 AGK HADH NDUFV2 GATAD1 ACAD9 GNPTAB IDUA ACTA1 HBB GBE1 RERE TFR2 POLG HADHB TPM1 MAD2L2 PRDM16 LTBP4 NEU1 SKI AIP NDUFAF3 NDUFAF2 TNNI3 RBM20 FANCB MYH7 TRNW PEX2 PEX10 MTFMT SDHD SLX4 SLC25A4 BAG3 GLB1 ALMS1 KRAS PGM1 COX7B ANO5 PARS2 TNNI3 DPM3 BBS2 FHL2 GABRD LMNA SOS1 HAMP NDUFAF2 DMPK PEX26 MYH7 CRYAB PNPLA2 SURF1 RYR2 SGCA NDUFS1 SAMHD1 C1QBP HPS1 NDUFV1 KBTBD13 TREX1 RAF1 MGME1 ABCC6 UBE2T CENPE GTF2I WARS2 MYH7 DMD COG7 TWNK HGSNAT LAMB3 DSC2 KCNQ1 TMEM126B KANSL1 GTF2H5 NEK8 FHL1 FTO CLPB LDB3 OPA1 NDUFB10 ALG1 PRKAG2 TWNK RYR1 DNAJC19 PSEN2 HADHA COX14 HADHA MAP2K1 RNU4ATAC HFE AIP NDUFS2 ELAC2 CPT1A MAP2K1 TMEM70 SELENON PCCB NDUFAF4 NEXN ERCC4 ERBB3 VCL NEXN RAD51 ATAD3A AARS2 TRNT1 QRSL1 NDUFA9 MMUT HSD17B10 SCN5A XRCC2 MYH7 PEX19 NAGLU TRNL1 ACTC1 PEX5 ADA2 DOLK HNRNPA1 TPM3 CPT2 MYPN ADAR DMD SLC25A3 MYL2 MEN1 RFWD3 NDUFV2 ND5 HSD17B10 GPC4 SARDH COX6B1 ND6 FOS HLA-B MMP1 BOLA3 TNNI3 GMPPB MEG3 NDUFS4 PRDM16 AGK KCNJ8 IDH2 DLK1 PEX11B TPI1 LIAS PPARG NAXD PSEN1 WFS1 GTF2E2 ACAD8 PKP2 SGSH MYPN ABCC9 MYPN IGF2 BAZ1B VHL JUP ALG1 NDUFAF1 POMT1 RAF1 MIPEP PEX1 COX7B CPT2 ATP6 NEBL LDB3 ERCC3 COA8 CAV3 CSRP3 DMD SGCB KCNAB2 TMEM43 VPS33A POMT2 GJA5 TRNL1 SDHA