SNPMiner Trials: Mutation Report
Report for Mutation A147T
Developed by Shray Alag, 2019.
SNP Clinical Trial Gene
There are 3 clinical trials
Clinical Trials
This study will use positron emission tomography (PET) to measure a brain protein called
peripheral benzodiazepine receptor (PBR) in patients with multiple sclerosis. PBR is created
during the inflammation process, and brain inflammation is a key feature of multiple
sclerosis (MS). PBR usually affects one type of brain cell, but it can also cause damage to
surrounding areas of the brain in patients with MS. PET studies of PBRs and brain
inflammation may help elucidate the role of these brain cells in patients with MS.
Healthy normal volunteers and patients with MS between 18 and 70 years of age may be eligible
for this study. Patients with MS must have had onset of disease between 18 and 40 years of
age.
Patients with MS undergo the following procedures:
Visit 1: Medical history, physical examination, blood tests and magnetic resonance imaging
(MRI).
Visit 2: Blood tests and PET scan.
Visits 3 and 4: MRI and physical examination.
Visit 5: PET scan and blood tests.
Visit 6: MRI and physical examination.
Healthy volunteers undergo the following:
Visit 1: Medical history, physical examination, blood tests.
Visits 2 and 3: PET and blood tests.
Magnetic Resonance Imaging
MRI uses a magnetic field and radio waves to produce images of body tissues and organs. For
this procedure, the subject lies on a table that can slide in and out of the scanner (a metal
cylinder), wearing earplugs to muffle loud knocking noises that occur during the scanning
process. The procedure lasts about 90 minutes; the patient is asked to lie still for up to 25
minutes at a time. The subject can communicate with the MRI staff at all times during the
scan. During part of the scan a contrast agent is administered through a catheter (plastic
tube) placed in an arm vein to enhance the images.
Positron Emission Tomography (PET)
The PET scan gives information on brain and body chemistry and function. The subject lies on
a bed that slides in and out of the doughnut-shaped scanner. A catheter is placed in a vein
in the arm and another is placed in an artery in the wrist or elbow area. The catheter in the
arm is used for injecting a radioactive material that the scanner detects, and the other is
used to collect blood samples. A custom-molded plastic mask is used to support the head and
prevent it from moving during the procedure. The subject may be asked to perform various
tasks during the PET scan or to lie quietly. The scan lasts about 2.5 hours.
NCT00432900 Multiple Sclerosis Radiation: [(11)C]PBR28
- Homozyous for the low- affinity binding form of TSPO by TSPO genotype analysis (
Ala147Thr polymorphism in rs6971 SNP in exon 4 of the TSPO gene). --- Ala147Thr ---
HEALTHY VOLUNTEERS - EXCLUSION CRITERIA:
Homozyous for the low- affinity binding form of TSPO by TSPO genotype analysis ( Ala147Thr
polymorphism in rs6971 SNP in exon 4 of the TSPO gene). --- Ala147Thr ---
Primary Outcomes
Measure: Correspondence between increased PBR expression measured by [11C]PBR28 PET and gadolinium-enhancing lesions on MRI.
Time: At time of dosing
Measure: Correspondence between increased PBR expression and previously and/or persistently gadolinium-enhancing lesions on MRI.
Time: At time of dosing
Secondary Outcomes
Measure: Correspondence between PBR expression and other MRI defined pathology including T2-weighted hyperintense and T1-weighted hypointense lesions.
Time: Follow-up (~Month 4)
Measure: Correspondence between PBR expression and normal appearing white and gray matter on MRI.
Time: Follow-up (~Month 4)
This is an adaptive Positron Emission Tomography/ Computed Tomography (PET/CT) and Dynamic
Contrast-Enhanced Magnetic Resonance Imaging (DCE-MRI) open-label study design for the
investigation of inflammation in adult rheumatoid arthritis (RA) patients, not involving
therapeutic intervention. Each study participant will undergo two half body PET/CT scans from
the pelvis to the bottom of the feet (including hands and wrists) with an additional bed
position centred on the shoulders. One scan will be conducted with 18F-FDG and the other with
18F-GE-180. The first PET/CT scan (PET1) will be performed 4 weeks (28 +/- 2 days) after the
first screening visit, whereas the second PET/CT scan (PET2) will be carried out within 2
weeks (7 +/- 7 days) after PET1. The order of PET/CT scans for each subject will be based on
a computer generated randomisation schedule after the screening visit. A sub-group of study
participants will be invited to undergo an additional dynamic 18F-GE-180 PET scan of a
selected joint (knee or wrist) prior to their 18F-GE-180 PET/CT half body scan. The primary
objective of the study is to quantify inflammation in joints of RA patients by determining
18F-FDG and 18F-GE-180 uptake using PET, and DCE-MRI parameters.
- Contraindication to MRI scanning (as assessed by local MRI safety questionnaire) which
includes, but is not limited to, intracranial aneurysm clips or other metallic
objects, history of intra-orbital metal fragments that have not been removed by a
medical doctor MD), presence of a cardiac pacemaker, non-magnetic resonance (MR)
compatible heart valves or other electronic device or ferromagnetic metal foreign
bodies, inner ear implants or history of cancer in first degree relatives diagnosed
before age of 55.
- Presence of Ala147Thr polymorphism in translocator protein (TSPO) (which confers low
affinity binding of 18F-GE-180) following confirmation by genotyping assay. --- Ala147Thr ---
Primary Outcomes
Description: Half body and shoulder images from 18F-FDG and 18F-GE-180 will be visually inspected by two nuclear medicine physicians with respect to the clarity and ease of identifying abnormal high uptake in joints suspected to have inflammation. A subjective scale of abnormality will be applied to each image as follows: 3 = excellent quality; 2 = intermediate quality; 1 = poor quality but still interpretable; 0 = poor quality, not interpretable.
Measure: Evaluator's assessment of image quality and potential to define abnormality
Time: Week 8
Description: SUV will be derived from PET static imaging for 18F-FDG and 18F-GE-180 in selected joints. Using normalisation by weight and body surface area, SUVmax, SUVpeak and SUVmean (average of voxel values above a 75% iso-contour of SUVmax) will be calculated within the joint volume.
Measure: Standardised Uptake Value (SUV) of 18F-FDG and 18F-GE-180
Time: Week 8
Description: TR will be derived from PET static imaging for 18F-FDG and 18F-GE-180 in selected joints. TR will be determined using the mean image value within each joint volume, and either the blood concentration decay-corrected to the start of the PET acquisition or the mean image value within non-inflamed muscle as reference.
Measure: Tissue-to-reference Ratio (TR) of 18F-FDG and 18F-GE-180
Time: Week 8
Description: TIV will be derived from PET static imaging for 18F-FDG and 18F-GE-180 in selected joints.
Measure: Total Inflammatory Volume (TIV) of 18F-FDG and 18F-GE-180
Time: Week 8
Description: Ktrans will be derived from DCE-MRI in selected joints
Measure: Exchange Rate (Ktrans)
Time: Week 8
Description: Ve will be derived from DCE-MRI in selected joints
Measure: Interstitial Volume (Ve)
Time: Week 8
Description: IRE will be derived from DCE-MRI in selected joints
Measure: Initial Rate of Enhancement (IRE)
Time: Week 8
Description: ME will be derived from DCE-MRI in selected joints
Measure: Maximal Signal Intensity Enhancement (ME)
Time: Week 8
Secondary Outcomes
Description: 18F-FDG and 18F-GE-180 static images will be evaluated by experienced observers with respect to the ease of identifying high uptake in joints suspected to have inflammation. Images will be assessed on the basis of a 4-point visual scale of abnormality/discernibility (0=poor quality - 4=excellent quality) and the number of abnormal joints will be counted.
Measure: Visual assessment of static 18F-FDG and 18F-GE-180 images using a 4-point visual analysis scale and abnormal joint counts
Time: Week 8
Description: The correlation between PET static imaging parameters (SUV, TR and TIV) of 18F-FDG and 18F-GE-180 will be determined
Measure: PET static imaging parameters (SUV, TR and TIV) of 18F-FDG and 18F-GE-180 in selected joints
Time: Week 8
Description: In order to verify static imaging parameters for scans, the pharmacokinetic profile of 18F-GE-180 will be determined, using dynamic PET scanning, blood sampling and HPLC analysis in a sub-cohort of RA study patients. 18F-GE-180 radio-PK parameters will be correlated with 18F-GE-180 static imaging metrics (SUV, TR and TIV)
Measure: 18F-GE-180 radio-PK modelling indices (total distribution volume; VT) and 18F-GE-180 static imaging metrics (SUV, TR and TIV)
Time: Week 8
Description: Number of AEs and SAEs as a measure of safety and tolerability of 18F-GE-180 and 18F-FDG
Measure: Adverse events (AEs) and serious adverse events (SAEs) assessment
Time: Week 8
Background:
- The brain is protected by a barrier that keeps toxins in the blood from reaching the
brain. However, this barrier can also keep useful medications from reaching the brain.
P-glycoprotein (P-gp) is a brain protein that is part of the blood-brain barrier. The
level of P-gp is higher in people with epilepsy than in people without epilepsy. These
different levels of P-gp may explain why some people have seizures that do not respond
well to medications. Researchers want to see if P-gp can affect the response to epilepsy
medications.
- Epilepsy may also be associated with brain inflammation. Researchers also want to look
at the part of the brain affected by epilepsy to see if inflammation is present.
Objectives:
- To see if P-gp can affect the response to epilepsy medications.
- To see if inflammation is present in the part of the brain affected by epilepsy.
Eligibility:
- Individuals between 18 and 60 years of age who have temporal lobe epilepsy. We plan
to study some patients whose seizures are well controlled by drugs, and some whose
seizures are not controlled.
-
- Healthy volunteers between 18 and 60 years of age.
Design:
- This study requires four or five visits to the NIH Clinical Center over the course of a
year. The visits will be outpatient visits and will last from 2 to 5 hours.
- Participants will be screened with a physical exam and medical history. Blood and urine
samples will be collected.
- All participants will have two positron emission tomography (PET) scans. The scans will
take place during different visits. Different drugs will be used in each scan. One drug
will be used to temporarily block the effect of P-gp in the brain. The other drug will
show areas of inflammation in the brain.
- Participants with epilepsy will have a third PET scan. This scan will also look at P-gp
activity in the brain. However, it will not use the drug that blocks the effect of P-gp.
- All participants will also have one magnetic resonance imaging scan. This scan will help
show brain function.
This polymorphism is due to the non-conservative
amino-acid substitution at position 147 from alanine to threonine (Ala147Thr) in the fifth
transmembrane domain of the TSPO protein. --- Ala147Thr ---
Primary Outcomes
Measure: Amount of differential [11C]dLop and [11C]PBR28 uptake between the epileptic focus and the homologous contralateral region
Time: study completion
Secondary Outcomes
Measure: Secondary Outcome Measure: A secondary goal is to determine if inhibiting P-gp with tariquidar results in increased concentrations of anti-epileptic medications into the CSF, as a surrogate marker for increased penetration of these medication...
Time: study completion
HPO Nodes
Genes 14
DCLRE1C IL2RA IL2RB LACC1 PTPN2 ANKRD55 PTPN22 IL6 GCH1 HLA-DRB1 ACP5 CD247 STAT4 MIF Genes 1434
CLPP NHLRC1 GPHN TACO1 UBA5 CLN8 EPRS NAT8L AARS CTU2 ABAT GLRX5 ERCC1 ERCC2 AMER1 ERCC3 ERCC4 ERCC5 ERCC6 PIGP MANBA STUB1 ACADM STAG1 ACADS MAP1B ACADSB ACAT1 MAPT DNAJC19 USP9X SLC35C1 KDM5C ACO2 SMC1A ACOX1 RPS6KA3 BCKDK APC2 ACTA2 TMEM216 ACTB KATNB1 SLC6A19 MC1R ZFP57 MC2R NAA10 SAMD12 WDR81 ACTG1 TCIRG1 L2HGDH DHDDS LAGE3 LAMC3 RPS20 EXT2 RXYLT1 EXTL3 ACVR1 ADGRV1 ACVRL1 PCDH12 ACY1 MDH2 RREB1 ARID1A EZH2 TIMMDC1 ADAR TRDN IL17F ABCA7 MECP2 KLRC4 WARS2 MEF2C MEFV STX1B MEIS2 PHF21A RYR2 ADD3 TBC1D24 WAC SLC12A5 MEN1 SEMA3A ADK SHROOM4 BPTF TUBB3 TUBB4A ARID1B ADRA2B MGAT2 PANK2 FBP1 SARS NLGN4X ADSL MBTPS2 MGP SC5D COG6 ARHGAP31 FKTN STRADA AGA HECW2 SCN1A SCN1B PCDH19 SCN2A PGAP1 RNASEH2C SCN3A HACE1 MIPEP ARL13B SCN8A GPC4 SCN9A SCN10A KIAA1109 EMG1 MLH1 AHSG SCO1 CC2D2A ANTXR1 KMT2A FGF8 PLA2G6 AKT1 AKT2 FGF12 ALAD FGFR1 TOMM40 FGFR3 ABCD1 FGFR2 HAX1 PWAR1 TP53RK FAR1 PRKAG2 FH ALDH3A2 PIBF1 DOCK6 POMK ALDOB ZBTB18 KCNT1 SLC9A6 MOCS1 FOXG1 MOCS2 SEC23B SDHA SDHB SDHC SDHD ALPL MPL CUL4B TRAF7 DIP2B FLI1 FLII FLNA COG2 AMPD2 SET AMT FOXRED1 DEAF1 FMR1 ANK1 ANK3 OFD1 OSTM1 SLC25A4 CISD2 RNASEH2A CTC1 PTF1A NACC1 PUF60 FOLR1 SGSH UFC1 FLVCR1 PEX3 CEP290 CNTNAP1 ARX DOLK SLC35A1 SLC19A2 LARS KCNAB2 ARFGEF2 TMEM138 IKBKG SHH TRMT1 ELP1 PHF6 NTNG1 POMGNT1 RNF213 ICK UQCC2 FBXO11 NPC2 SPG11 CNKSR2 ARMC9 MSH2 CHD7 FASTKD2 ST3GAL3 ZSWIM6 FLVCR2 POMT1 TXNRD2 MTHFS CCDC115 OSGEP APP SIX3 NUBPL SKI PIGV FAS FASLG CCDC141 AQP2 WDR26 SLC1A2 SLC1A3 SLC1A4 CDK10 COA8 TDP2 ADAM22 UFM1 SLC2A1 CEP164 ARCN1 PEX26 ARF1 CYFIP2 COG8 SLC3A1 STAMBP TRAK1 DHX30 EPG5 CASK FAN1 MTFMT ARG1 SLC6A1 TPK1 SPTBN4 SLC6A8 MSX2 NBAS PACS1 ARHGDIA SETD2 LIPT1 NPRL2 RAB3GAP1 ARL3 RAB18 PIGT MLH3 NDUFAF4 RPIA PIEZO2 CCDC88A ARSA SLC25A12 STS ATP6 FAM111A SLC12A1 TRNC SLC12A3 FRA16E COX1 COX2 COX3 ARVCF KLF13 WDR11 SLC16A1 CYTB FEZF1 MTHFD1 ASAH1 FARS2 MTOR MTHFR ELMO2 SLC18A3 ASCL1 CDK13 SLC20A2 SLC25A1 OTUD6B ASL FRG1 JRK MTM1 KLHL15 ND1 ASNS ND2 SLC22A5 GNB5 ND3 XPNPEP3 EBP ND4 ASPA RNASET2 NAXD PPA2 ND5 ASS1 ND6 CLDN16 TIMM50 NUP133 ANKRD11 SMARCA2 MTR B9D1 RNR1 SMARCA4 SMARCB1 CNPY3 MAST1 FLCN MTRR SMARCC2 DNAJC5 MPC1 SMARCE1 TRNF C11ORF95 FTL NDUFAF6 ALDH4A1 SMS MFSD8 TRNH FUCA1 TRNI TRNK ATIC TRNL1 ATM NGLY1 SNAP25 RERE EIF3F TRNN CERS1 TRNP ATP1A1 TBR1 TRNQ ATP1A2 AP4B1 TBC1D23 ATP1A3 TRNS1 TRNS2 C9ORF72 OCLN TDP1 TRNT TRNV MBD5 FUT8 TRNW STX16 STX11 SUFU ERMARD FXYD2 ATP2A2 SPATA5 MCTP2 PRDM16 LMBRD1 PLK4 TRAPPC2L SNRPN STAG2 ATP5F1A MMUT MEGF10 UNC80 ALDH7A1 MVK RAI1 GABRA1 SON SORL1 PHACTR1 GABRB1 ATP5F1D GABRB2 SOX2 GABRB3 SOX3 GABRD SNORD115-1 SPATA7 SOX5 TRAF3IP2 GABRG2 SOX10 SOX11 ATP6V1A GAD1 MYH3 ATP6V1B2 VPS11 ATP6V1E1 CTSF GALC UPB1 EOGT ATP6AP1 NKX6-2 EMC1 ATP7A DIS3L2 ADAT3 SPAST GPAA1 WWOX ATR GAMT WDR4 ATRX CRADD KIF1A MYO5A AUH ERAP1 MYO9A SPR AVPR2 NEXMIF ATP8A2 TMEM165 ZNF423 INPP5K NADK2 SPTAN1 IQSEC2 GAS1 NAGA NAGLU HDAC8 ASH1L CPLX1 GATA3 GATA4 GATA6 FADD GBA PWRN1 CDH23 MPDZ FGFRL1 NFASC SIK1 GCDH BCKDHA BCKDHB SLC46A1 GCH1 NDN GCK NDP NDUFA1 POGZ NDUFA2 MCCC2 TNFRSF11A NDUFA4 COL25A1 SSR4 TUBGCP4 GCSH PDE10A PEX11B TUBA8 C12ORF57 NDUFA9 NDUFA10 SUCLG1 GDF2 ZC4H2 SUCLA2 COQ2 BCR ANKLE2 ADA2 GDI1 BCS1L NDUFB8 GDNF DPM1 GFAP NDUFS1 NDUFS2 CIC MMADHC DPM2 NDUFS3 STAR BDNF NDUFV1 NAGS HESX1 NDUFS4 SLC39A8 FGF17 NDUFS6 STAT3 STAT4 SNORD118 NDUFS8 NDUFV2 SYNGAP1 SLC52A3 ELOVL4 IFIH1 CDKL5 GJA1 BMP2 BMP4 NEK1 BMPR1A GK SRPX2 NEU1 NEUROD2 KISS1R NF1 STXBP1 GLA GPC3 NDUFA12 GLB1 TMTC3 BRAF SYNJ1 NF2 ST3GAL5 SUOX NFIA KLHL7 MLC1 GLDC GLE1 SQSTM1 BTD SGPL1 GLI2 GLI3 ABCC8 SURF1 PGAP2 GLRA1 RHOBTB2 SUMF1 GLRB NFKB2 EIF2B4 GLUD1 EIF2B3 BUB1 AFG3L2 VAMP1 EIF2B2 CYP26C1 BUB1B EIF2B5 FAM126A ARHGEF9 VPS13A GLUL PLCB1 SYN1 SMG9 SYP HYLS1 GM2A AP1S2 ACSF3 PACS2 LIPT2 IRF2BPL KIAA0556 CACNA1H C4A TRPV3 BCL10 TACR3 NIPA1 GNAO1 GNAQ TAF1 GNAS SEMA4A DENND5A HERC2 HERC1 CAMTA1 ROBO3 GNB1 FOXH1 GTPBP3 PHOX2B CLP1 GPT2 BRAT1 MAPRE2 NODAL MYRF NONO AP3D1 GNS PIGO TAT NOTCH1 TBX1 CNTN2 ALG1 NOTCH3 TBCD TBCE GP1BA GP1BB TBP SPINK5 CA8 GP9 NPC1 TLK2 NPHP1 CACNA1A RNU12 CACNA1C CACNA1D CACNA1E LIAS TCF4 NCAPD3 HNF1A HNF1B CACNB4 SATB2 SLC25A20 CUX2 CAD RPGRIP1L NRAS NEDD4L B4GAT1 MLX MID2 HTRA2 SZT2 PRICKLE1 CAMK2A CAMK2B HCN1 MYO1H NTRK2 PCLO HGSNAT SLC19A3 NSD1 CASP10 CRPPA GRIA3 CASQ2 GRIA4 CASR GRN GRIK2 IL17RC TDGF1 GRIN1 LMNB2 GRIN2A GRIN2B OCRL SYT2 AIP GRIN2D SIK3 GRM1 ADNP LARS2 ATP13A2 CIT CBS TSEN2 TFAP2A ANKH OPA1 OPHN1 POLR3A STT3B KRIT1 GSS MLYCD CRB1 KPTN CCND2 TGFB1 MMAA IL1RAPL1 TBX19 AP4E1 TGFBR2 GPR161 B9D2 TGFBR3 TGIF1 MSH6 COL18A1 MFSD2A WDR45 GTF2E2 OTC AP4S1 SLC35A3 KLLN OTX2 ERLIN2 THPO POMGNT2 LINGO1 ATAD1 ABCA5 SMC3 GUCY1A1 AIFM1 IL12A-AS1 NANS TK2 ASXL3 ETHE1 GYS1 SCARB2 GYS2 PPP1R15B MRAP GUCY2D PAFAH1B1 TGDS TLR4 PRDX1 PAH SLC6A5 TREM2 PAK1 CKAP2L PAK3 MACF1 PLPBP WDR73 ZFYVE26 SERAC1 HSD17B10 PAX2 HADHA HADHB HADH LNPK AP4M1 BUB3 POLG2 SLC25A19 KAT6B PDCD10 PC CDC42 PCCA PCCB CLCF1 NNT AGRN HCCS SLC33A1 HCFC1 CDH11 DISP1 PCK1 CDH15 MAN1B1 TP53 HTT ATP6V0A2 COX14 LGI1 CDK5 PCNT XPR1 PIGM RD3 LARGE1 HEXA PIGY PCSK1 PIGN SDHAF1 TMEM67 USP18 PCYT1A LRAT TREX1 ASXL1 RAB11B SCN11A HIC1 PNKP HIVEP2 PGAP3 PDE6D CRLF1 GCM2 HLA-B PDGFB TRIO MICOS13 CENPE AIMP1 PDGFRB PDHA1 HLA-DPA1 HLA-DPB1 AMACR GDF6 GLYCTK SLC5A7 HLCS PEX1 CLEC7A PEX6 PEX7 PEX10 ADGRG1 HMBS PEX12 PEX13 PEX14 CHAT TSC1 CHD1 TSC2 CHD2 HMGCL HMGCS2 CHKB CHN1 HNF4A TRIP13 TRIP12 LYST TTR ZNHIT3 PGK1 CHRNA2 TUBB2A CHRNA4 ALX4 CHRNA7 TUBG1 HNRNPH2 CHRNB2 TULP1 HNRNPU HIRA RNU4ATAC TWIST1 SNAP29 EFTUD2 PRUNE1 ERCC8 TYROBP HEPACAM KMT2C GUF1 ZDHHC15 LONP1 UBA1 UBE2A SERPINI1 PLAA CLCN2 PIGA CLCN4 PIGC KCNQ5 NALCN PIGH CLCNKB CLIC2 UBE3A HPD PIK3CA UBTF TPP1 PIK3R2 CLN3 DSTYK HS6ST1 CLN5 FRRS1L RAB3GAP2 UCP2 RECQL4 UFD1 SLC35A2 CLTC NPAP1 PEX16 HRAS ASPM AIPL1 GTF2H5 CRIPT GPSM2 PLAGL1 CCR1 IL17RA ATXN10 FLRT3 MTO1 FTO HSD17B4 MED17 PYCR2 PRMT7 TXN2 GMPPB GMPPA ALG6 PLP1 EIF2AK3 KDM6A NIPBL D2HGDH COG4 VARS NAXE VCP PMM2 VDR COL3A1 HSPD1 COL4A1 POMT2 PMS1 PROK2 KCTD7 COL4A2 NDUFB11 NDST1 TRAPPC11 VLDLR MICAL1 PIGL PSAT1 EXOSC9 PMS2 MAGEL2 COL13A1 NDUFAF5 COMT ARV1 NMNAT1 ADAMTS3 MBOAT7 DLL4 PMPCB FKRP WFS1 WHCR PODXL NSD2 NELFA POLA1 INPP5E IARS FA2H POLE RRM2B POLG MPDU1 B3GALNT2 RTTN NDUFAF3 COX6B1 POMC COX7B COX8A COX10 POU1F1 COX15 TWNK POU3F4 XK TSEN54 SAMHD1 XPA XPC SIN3A PLEKHG2 IDH2 CPOX CPS1 CPT1A IDS CPT2 GABBR2 GOSR2 CTSA LGI4 SP110 CREBBP YWHAE YWHAG PREPL SHANK3 SH2B1 TOE1 ALG2 MMACHC CRKL PPM1B NECAP1 NDUFA11 CHMP2B PPOX ZIC2 CRX UGT1A1 TUBGCP6 TMEM106B PPP2CA PPP2R1A TRMT10A GTPBP2 BCL11B PPP2R5D PPP3CA NSMF KANSL1 KCNT2 SEC24C CYP2R1 PPT1 ISG15 ZNF592 PRF1 PDP1 CSNK2A1 NUS1 SETBP1 IQCB1 TBCK RBPJ CNTNAP2 CEP41 DOCK7 GEMIN4 CSTB MPLKIP PIGW FMN2 SLC13A5 PRKCD CTBP1 PNPLA8 DEPDC5 CTH CTLA4 PRKDC SELENOI MAPK1 CTNNB1 SLC45A1 CTNND2 PUM1 MAPK10 MAP2K1 IL17RD CTSD GFM1 CEP57 RUBCN PRNP ADAMTSL2 PROC CRB2 PRODH PROP1 PRPS1 TRPM6 MKRN3 IL10 CEP104 COX20 IL12A IL12B TCTN3 IFT140 IBA57 KIF1BP RELN TRIT1 CNNM2 HTRA1 AHI1 NDUFS7 ZBTB20 SAMD9 PRTN3 PSAP FRMPD4 IMPDH1 HDAC4 PSEN1 PSEN2 NDE1 TMEM237 EARS2 TMEM94 PET100 INS CYP27A1 RNF113A CYP27B1 KIAA0586 INSR PSMB8 PDX1 DAG1 IPW KIF4A FTSJ1 PTPN22 TUBB2B DBH UPF3B PSMD12 NHLRC2 PIGG MCCC1 PSPH DBT DCC PTCH1 PTEN BCOR METTL23 DNAJC6 NSUN2 DCX NEK9 DDB2 PTH ITGB6 ZEB2 MRPS22 DDOST PHGDH SNORD116-1 MFF DDX3X STT3A MKS1 ITPA KIAA0753 FBXL4 TBC1D20 NSDHL IVD JAK2 ANOS1 PRDM8 CCM2 ARL6IP6 EFHC1 KCNA1 ADPRHL2 KCNA2 CEP120 LMAN2L RNF125 ALMS1 KCNB1 MOGS KCNC1 HIBCH PROKR2 CLPB KCNC3 COQ8A TUBA1A TECPR2 FIG4 KCNH1 CXCR4 PTS KCNJ1 KCNJ6 DGUOK DHCR7 PURA DHCR24 KCNJ10 DHFR KCNJ11 TMEM70 KCNJ13 COQ9 NECTIN1 ARNT2 PEX19 DIAPH1 KCNMA1 PEX2 PEX5 CLN6 ALDH18A1 KCNQ2 DLD KCNQ3 DLG3 RARS2 MAFB RBM8A KIF2A KIF5A KIF5C RAB39B RFT1 SLC52A2 SARDH RMND1 TMEM231 DNM1 CARS2 CPLANE1 QARS QDPR HYMAI ALDH5A1 TSEN15 MED12 DNASE1L3 TRAPPC9 RAB27A TCTN1 DYNC1H1 IL23R JAM3 WDR62 RAC1 KIF11 CDON DNMT3A RAD21 RNASEH2B KRAS DPAGT1 SLC12A6 CPA6 RPGRIP1 LCA5 SCO2 DPYD DPYS RANBP2 AKT3 FAT4 RAP1A PDSS2 RAP1B EPM2A B3GLCT ROGDI ISCA1 RARS LHX4 AIMP2 ATN1 MCPH1 NUP107 GNE NDUFAF2 COG7 PIGS DUSP6 L1CAM TPRKB KAT6A COQ6 EXOSC3 DYRK1A LAMA2 FARSB LAMB1 RDH12 DNM1L ABCC9 ALG11 GJC2 RELA VARS2 DPF2 ANO10 LBR HUWE1 RET COLGALT1 PRRT2 ECE1 DLL1 CCNQ PQBP1 ECHS1 ECM1 COL4A3BP BOLA3 TBL1XR1 JMJD1C LETM1 NARS2 PDHX EDN3 TSFM KIF7 PNPO MKRN3-AS1 EEF1A2 ESCO2 SLC25A22 NDUFA13 SLC17A5 LHX1 CCDC88C SNIP1 GAL RASGRP1 LIG4 ANGPTL6 SNX14 LRPPRC SEPSECS KMT2D BCAP31 AAAS TRNT1 EGF LMNA KMT5B TRAPPC12 MYH14 SETD5 ZDHHC9 ATAD3A AASS COQ4 CCBE1 EIF2B1 ATP6AP2 EIF2S3 ARID2 IER3IP1 ALG9 SLC25A15 AP3B2 SPRY4 MED25 NPRL3 LRP2 EHMT1 SASS6 ROBO1 UBAC2 CAMKMT RORA ALG3 BSCL2 ASXL2 EML1 TANGO2 LAS1L ENG EPCAM RPE65 CSPP1 VPS53 CD96 EP300 CRBN VPS13B RPL10 SMAD4 TCTN2 ALG13 MAF NIN Genes 5
NHLRC1 RELN EPM2A LGI1 MICAL1 Genes 172
COL2A1 HJV COL3A1 IL10 RNASEH2B GDF5 IL12A RAG1 COL5A1 HGD IL12B RAG2 COL5A2 TREX1 DNAJB11 NLRP12 HNF1B COL9A1 TCF3 COL9A2 COL9A3 COL11A1 COL11A2 ATP7B RNF168 ZMPSTE24 UFSP2 ANK1 WAS COMP COMT WIPF1 MLX HLA-B RNASEH2A ERAP1 LEMD3 SLC26A2 HLA-DRB1 GJB6 MATN3 SPTA1 ACP5 SPTB SH3KBP1 TRPS1 PSMB4 BLNK PSMB9 GBA CASP10 PTPN22 IRF5 SAMHD1 EXT1 GCH1 EXT2 OCRL AIP CAV1 LBR PSTPIP1 APOE PFKM GPR101 RREB1 CFI FAS FASLG HNF4A ADAR ADA2 TF ANKRD55 ANKH F8 SLC40A1 KLRC4 F9 JMJD1C MEFV NLRC4 NLRP3 STAT3 STAT4 SLC4A1 HIRA KIF7 TFR2 NOD2 GHR PHEX TGFB3 CCN6 IFIH1 PTPN2 RASGRP1 GJB2 CD247 FBN1 IL36RN GLA SLC12A3 SEC24C LMNA CLCN7 CLCNKB HOXD10 AEBP1 ARVCF DCLRE1C CANT1 LACC1 MYH14 LMX1B MTHFD1 ASAH1 IL12A-AS1 AGA PIK3R1 ACAN HPGD SLCO2A1 HPRT1 IGHM SCARB2 BTK RNASEH2C UFD1 MIF TLR4 LRRC8A UMOD PRKCD CD79A TRPV4 CD79B CCR1 UBAC2 C4A CCN2 CCR6 FGFR3 IGLL1 GNAS LRBA TNFRSF1A MMP13 MUC1 IL2RA SEC61A1 PRG4 IL2RB EPCAM G6PC TNXB SLC37A4 DNASE1L3 ABCG5 IL6 ABCG8 IL23R TBX1 EPB42 MVK ZNF687 SMAD3 KIF22 GP1BB COL1A1 PRPS1 TRAPPC2