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 NCT01331642

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

Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)

NCT01331642 Splenomegaly Hepatomegaly
MeSH:Hepatomegaly Gaucher Disease Splenomegaly
HPO:Hepatomegaly Splenomegaly


Primary Outcomes

Description: Next-Generation Sequencing (NGS) of the GBA gene will be performed. The mutation will be confirmed by Sanger sequencing.

Measure: Sequencing of the Gaucher disease related gene

Time: 4 weeks

Secondary Outcomes

Description: The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Measure: The Gaucher disease specific biomarker candidates finding

Time: 24 months

Time Perspective: Prospective

Cohort


There are 4 SNPs

SNPs


1 L444P

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P ---


2 N370S

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S ---

The exception is the mutation N370S, which has so far been detected in connection with only visceral progress forms (type1). --- N370S ---


3 R463C

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P --- --- R463C ---


4 R496H

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P --- --- R463C --- --- R496H ---



HPO Nodes


HPO:
HP:0002240: Hepatomegaly
Genes 694
PSMB4 CLCN7 TNFSF11 TRNK PEX3 GNE NDUFS4 PEX6 TREX1 GNE TRAPPC11 ABCC2 CAVIN1 INSR ERCC6 CAVIN1 ATP6AP2 LBR RASA2 NHLRC2 PEX3 NGLY1 UCP2 ND1 ANTXR1 BMP2 PIK3C2A HPGD AMACR HBG1 IFT172 BTNL2 NPHP3 PEPD KCNJ11 ASS1 GALT TCF4 GAA MFN2 SEC63 PEX11B ERCC6 CASR RIT1 ZAP70 MPV17 GPC1 GALE PEX13 GNPTAB PLEKHM1 RAG1 DYNC2LI1 TCIRG1 HSD3B7 FDX2 TNFRSF13B FERMT3 HSD17B4 FUCA1 HJV CLDN1 MYD88 AGGF1 ARSB SLC37A4 PIGA CD96 CYBA ERCC8 AKT2 TET2 MOGS RIPK1 NDUFV2 NDUFAF5 HFE GLIS3 DLD PEX2 GNS TRMU ND4 AP3B1 SLC25A20 CBL APOC2 CD28 LIPE RRAS2 CASP10 XRCC4 SUMF1 CA2 PC CC2D2A PDGFRB PTRH2 CCDC115 CPOX SLC13A5 GLRX5 PCK1 VPS45 FBP1 IFT122 TET2 PRKCD SLC7A7 ABHD5 PEX2 PCCA TTC37 DAXX INPPL1 TNFRSF13C SF3B1 AKR1D1 SLC25A19 TNFRSF1B SLC30A10 CBL PHKG2 PEX19 IL7R LMNA AGL GPC4 USB1 H19-ICR NLRP3 TRNV NAGA RMND1 TMEM70 SEC63 FAH GBA G6PC3 STX11 HNF4A PEX26 GUCY2D NDUFB10 TRMU DNAJC21 PEX26 SH2D1A MADD ERCC8 PDGFB FAS IDUA ARG1 NDUFA11 NDUFS3 GBA ALDOB TCIRG1 CALR SLC35C1 ACADVL RINT1 MRPL3 SP110 TET2 TKT SLC2A1 EPB42 HMGCL VPS13A NAGA SERPINA1 RFT1 LIG4 SLC25A20 NGLY1 RAG1 RRAS SLC22A5 SKIV2L MCM4 CLDN1 AGPAT2 PSAP TINF2 ALDOB LMNA GATA2 ND2 ND5 CR2 SLC7A7 NDUFS7 AGA TRIM37 MET NLRP3 SMPD1 APOE JAM3 GCDH CBS AP3D1 SOS2 LACC1 ACADVL CPT1A TKFC FOXRED1 LIPA PEX3 PEX1 ACAT1 PCCB CASP10 KIF20A ALDH7A1 RMRP KRAS IFT140 PPARG PEX12 HNF1A LBR PCCA SBDS KCNH1 TRNN MRAS SCO1 MRPS28 SLC25A15 CYP7B1 DCDC2 PEX1 PEX13 ERCC8 SLC25A15 BSCL2 SLC39A4 NDUFB11 RBCK1 ADA SLC20A2 NDUFAF8 LIPA PSMB9 PRF1 ATPAF2 ND3 SKIV2L GBA SLC4A1 GBA SNX10 JAK2 TNFRSF11A SUMF1 GUSB CD40LG LARS1 F5 MIF ABCC8 NPC1 FAS SLC22A5 SCARB2 HBB GBA MMAA MYBPC3 LBR NCF2 MAN2B1 PEX6 NOTCH2 PEX10 CTLA4 NPC2 SCYL1 CIDEC ALMS1 RAG1 CDKN1C TUFM IDUA HMGCL SBDS HBB GPC3 DHDDS XIAP PEX14 IL2RG SPTB PTEN NLRP1 TIMMDC1 AGPAT2 COG5 ALG13 DNASE1L3 ERCC1 ATRX RASGRP1 ND1 COG7 DLD IDUA COG4 MARS1 PRKCD SOS1 RMRP MPC1 EARS2 ABHD5 NDUFAF3 DHFR TGFB1 LCAT PSAP KCNQ1OT1 NPM1 ABCD3 NDUFS4 IL18BP ANK1 CTLA4 PEX14 DGUOK MMUT KLF1 PEX16 PIGM SLCO2A1 PEX1 ERBB3 LYZ TRNL1 CHD7 SLC37A4 BSCL2 ATAD3A DPM2 DNAJC21 NAGS B2M CTNNB1 MPI PEX14 TNNT2 SRP54 CAV1 RHBDF2 RTL1 LYST HBA2 TRNE TSFM CD19 HMOX1 NDUFB9 EWSR1 CCDC47 ND2 PLPBP PMM2 SLC25A1 EIF2AK3 CPOX CIDEC IDUA GPD1 PTRH2 GBA POLG HBG2 TNFRSF1A RAG2 PEX10 CLCN7 YARS2 NDUFS8 KCNN3 GBA MMUT SLC30A10 CPT2 GNMT NDUFS6 HYOU1 OCLN JAK2 ETFDH ATP8B1 AKR1D1 FLNC NCF4 FASLG COX4I2 PEX12 PIEZO1 PDGFRA TGFB1 CTNS NCF2 PNPLA2 TNFRSF1B DDRGK1 PHKB FUCA1 AGA NDUFS1 RAG2 TMEM165 TRNW MADD PYGL PEPD AMACR PEX5 IL6 ATP7B NCF1 SURF1 NDUFAF1 LTBP3 IL2RB SMPD1 BSCL2 MPL PSMB8 NDUFA6 SAA1 IL7R RNASEH2A DCTN4 FAH GAA CLCA4 ABCB11 LRP5 NDUFS2 TTC37 ASL LMNA SPTA1 PKHD1 ND3 KRAS SLC25A19 KLF1 MST1 SRSF2 ALG8 PEX16 FASLG NOP10 TRNS1 SOX10 FAM111B ALG2 RAF1 COG6 CPT2 ASAH1 HLA-DRB1 SC5D NDUFS7 NDUFA1 CYBB NUBPL NEU1 BSCL2 ATP6AP1 PTPRC MAGT1 ABCA1 TNNI3 GPIHBP1 SNX10 PHKA2 RTEL1 CYBA PTPN11 NDUFB3 PEX12 GPC3 FBP1 IDUA CTSK CASR XPR1 CYBB MTTP NRAS ICOS LPIN2 DCDC2 CLCN7 DOLK NEU1 ADA ABCB11 PEX6 TRNW PEX2 PEX10 ETFB SLC25A13 GLB1 DCLRE1C ALMS1 SLC25A13 NCF1 HBG2 CYBC1 A2ML1 FGA RPGRIP1L PHKG2 IL2RG KCNH1 MEFV CDIN1 ACOX1 ITCH HBB PLAGL1 LMNA TET2 HAMP NRAS NDUFAF2 ASXL1 PEX26 USP18 PNPLA2 WRAP53 FAS HYMAI C1QBP NDUFV1 HNF4A SLC29A3 G6PC1 SRP54 PEX6 GBA JAK2 DGUOK HGSNAT POLG2 ERCC6 APOA1 MMAB HBB IL1RN KCNQ1 TMEM126B ACADM NEK8 EIF2AK3 IFIH1 TERT RUNX1 ALG1 ABCB4 TALDO1 PEX12 STEAP3 HADHA COX14 HADHA RNU4ATAC HFE XYLT1 TRAPPC11 WDR35 EFL1 PHKA2 CD27 IDS CPT1A ATP8B1 PCCB NDUFAF4 POLD1 KCNN4 CTLA4 HMGCS2 MMUT PRKCSH HBA1 PEX16 CAV1 JAM2 ITK PEX19 AUH ERCC6 RAB27A DIS3L2 NAGLU CD28 PEX5 CTC1 ADA2 PEX5 MRPS7 CPT2 GBA MYPN STX1A TMEM67 HBA2 CFTR GFM1 GPC4 ICOS EFL1 ERCC8 TERC DDRGK1 ND6 FOS ACADM BOLA3 GLB1 MEG3 LZTR1 DPM1 HLA-DRB1 LIG4 PARN MPL INPP5E HSD3B7 ATP7B CD55 HLA-DRB1 PIGS MVK DKC1 DLK1 PEX11B TRIM37 APOE PPARG DCLRE1C UQCRB CYP7B1 ALG9 NHP2 SGSH GPR35 IGF2 ERCC4 EXTL3 NDUFAF1 FBN1 RFT1 HBA1 MYORG ATP6V1B2 PEX1 IL2RG OSTM1 CPT2 SLC17A5 ATP6 SMPD1 COA8 ETFA ACOX1 RHAG WT1 LIPA TMEM67 RAG2 VPS33A CYTB GALNS PYGL NEU1 BTNL2 XIAP ADAMTSL2 BTD MVK
Protein Mutations 4
L444P N370S R463C R496H
SNP 0
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