SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A147T

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

There are 3 clinical trials

Clinical Trials


1 PET Evaluation of Brain Peripheral Benzodiazepine Receptors Using [(11)C]PBR28 in Patients With Multiple Sclerosis (MS)

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
Conditions
  1. Multiple Sclerosis
Interventions
  1. Radiation: [(11)C]PBR28
MeSH:Multiple Sclerosis Sclerosis

- 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)

2 An Adaptive Design Open Label Pilot Study in Rheumatoid Arthritis Patients to Assess Inflammation Using Molecular Imaging Techniques

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.

NCT02350426
Conditions
  1. Arthritis, Rheumatoid
Interventions
  1. Other: Gadobutrol
  2. Other: 18F-FDG
  3. Other: 18F-GE-180
MeSH:Arthritis Arthritis, Rheumatoid Inflammation
HPO:Arthritis Polyarticular arthritis Rheumatoid arthritis

- 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

3 Positron Emission Tomography Measurement of Neuroinflammation in Focal Epilepsy

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.

NCT01663545
Conditions
  1. Epilepsies, Partial
MeSH:Epilepsy Epilepsies, Partial
HPO:Focal aware seizure Focal emotional seizure with laughing Focal sensory seizure Seizure

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


HP:0001250: Seizure
Genes 2968
MBD5 SH2B1 SMARCB1 PDHX TRNK PRICKLE1 ALDH18A1 MAGEL2 GLRA1 B3GLCT TREX1 GRIA2 TRAPPC11 TRNC DOLK POMGNT1 PLK4 CEP164 PHF21A BRAF EFTUD2 CNKSR2 PEX3 ATP6V1A PSAT1 ST3GAL3 APP ARVCF SIX3 PPP2R1A ND1 WDR11 EFHC1 TRPM6 ANTXR1 GABRA1 ARHGEF9 CNTN2 EDN3 RREB1 PTF1A NOS1AP CDK5 CAV3 OCA2 TUBB4A LETM1 FBXO11 ATXN10 KCNH2 DEGS1 MAFB ELMO2 ERMARD AP4B1 PEX11B PEX6 DNM1L SPATA5 FKTN EFTUD2 KCNH1 RPS6KA3 AARS1 LRAT HRAS POLG TSEN54 AIMP2 BUB1B DMD ERCC5 FLRT3 FOXH1 PEX11B TBC1D20 TPK1 ANKRD11 TARS1 PEX1 CEP290 KCNQ2 GLRX5 SPATA5 BRSK2 VPS13B TBC1D24 BRAF ADNP PNPO RAB18 SEC24C CDK8 TUBB2B TYROBP GABBR2 EXT2 PIK3CA HCN1 TBC1D20 TWNK GCH1 PGAP2 MBOAT7 PEX13 PIGA ATP5F1A TSC2 TSC1 WAC GNS FAR1 VPS53 HMGCS2 GRIN2B AKT2 THSD1 ADD3 GPT2 CRB2 CUX1 ATP6V0A2 MDH2 PRMT7 PC ZIC2 THPO SLC12A6 PIGK GRM1 ECE1 STAG1 GJA1 DNAJC6 ADGRG1 KMT2A PIGT VPS13B PHGDH PRKCD SUFU POMT2 PTCH1 KCNE1 SPATA7 TRRAP PLAGL1 AHI1 KMT2E DALRD3 JRK SCN1A GK EEF1A2 SCN8A RELN IRF2BPL VAMP2 RRM2B MTO1 GLUD1 INTS1 SCN1B COL3A1 PHKG2 NDUFAF6 ATP6V1E1 GRN PEX19 ASPM SMC3 PEX26 PPP1R15B PEX12 ACVRL1 AMACR STX11 HNF4A SDHA ADA2 CNOT1 MED25 ACTL6B SNORD115-1 PRDM8 MADD ERCC8 PPP2R5D SOX3 NDUFB11 CPLX1 MAN1B1 KCNB1 EMC1 MKRN3-AS1 ALDOB GRIN2B SEMA6B PSAP FA2H PEX16 ABCA7 FAN1 SLC25A10 COX10 SLC2A1 HMGCL NTRK2 XK TBC1D24 APC2 NGLY1 GLI2 MAF ANK3 F8 PCSK1 MTOR SMG9 SDHA C11ORF95 MVK KIAA0753 ECM1 PNKP SCO2 MKS1 PUF60 CLCN4 CCBE1 ELP1 AGA TAF1 BTD DHX37 PWRN1 WDR11 POU3F3 GDNF PIK3CA PPP3CA ND4 INTS8 PNKP CPT1A CHRNA7 PEX1 KAT6A LAMA2 FLI1 NRAS DLL4 CACNA1E SCN2A MBTPS2 MCPH1 POLG DISP1 EIF2S3 GRN DOCK6 KRAS ERMARD BAP1 SIX3 PEX12 PEX7 SMARCB1 TRNN SLC19A3 DCX L1CAM INSR LHX4 ALX4 ERMARD MSH6 CC2D2A PEX13 NIN BSCL2 CCBE1 GK SCN2A ZIC2 CACNB4 WDFY3 CDC42 JAM2 TRNK LAMA2 GABRA2 KCNQ1 HMBS ACY1 KCNMA1 MED23 CAMTA1 FGF8 DMXL2 PCDH19 SC5D DPM3 EIF2B3 SHH CNTNAP1 PAK1 SYNGAP1 SIK1 CREBBP WWOX HADH OCA2 XPNPEP3 HSPD1 NODAL CEP57 PEX10 PIK3R2 UBE2A GALNT2 SLC9A6 COG2 RAD21 SLC5A6 EZH2 MED25 SMARCA2 ADAT3 ECHS1 DLL1 SLC35A3 RERE FLNA CASK PTPN22 SLC6A8 PTEN FGF12 EPM2A TRNS2 ALDH7A1 CKAP2L CDON TREM2 PPM1B DEAF1 GAL DLD PLA2G6 COG4 EPM2A SIK1 ETHE1 SSR4 TBC1D23 IL12A-AS1 SNORD118 ENG CIT CDKN1B SLC13A5 CYP2R1 FOXG1 HYLS1 ARX UBE3A KCNQ3 NDUFS4 UGP2 TSC2 RANBP2 WAC PPP2R5D SLC2A1 TACO1 ATXN10 FDFT1 HCN1 AASS SLC2A1 CNKSR2 ATP8A2 WDR73 CARS1 SLC18A3 USP9X PEX1 TRNI CUX2 DLL1 NSUN2 TCF20 EXOSC9 TECR GALC PEX14 SLC12A5 ALDH3A2 PSAP GYS2 FGFR3 SORL1 GNB5 DDOST CUL4B TSFM MEIS2 PRODH WFS1 CLPP POMT2 PMM2 BRAF RPGRIP1L ATP5F1A RPIA TUBGCP6 ATP6AP2 CNTNAP2 NDN PEX5 KCNQ2 NTNG1 AIPL1 CTSA SPOP PGM3 CHRNA7 GBA MBD5 MPL SHANK3 KCNMA1 HIBCH PTS ZEB2 LMNB2 XPA TNFRSF11B MAN1B1 NEK1 TRDN BCAP31 WWOX KATNB1 ATRX SYNJ1 STT3A DPAGT1 HCCS GBA SNIP1 ENG SYNGAP1 CCNQ SATB2 PPP1R15B CLIP1 PSMD12 TSEN54 TP53 AGA LAMC2 CPLX1 SLC9A6 IL17F CEP104 PDHX ZNF592 CNTN2 HESX1 CAMKMT MED12 PIGL SDHAF1 MCCC1 CRBN POMK ALG2 TWNK COQ2 ALG9 ATAD3A GLI2 RNU4ATAC NEU1 MGAT2 PRRT2 EIF2B4 TASP1 PMS1 RNASEH2A TBC1D24 HERC1 HCN1 FKTN MLX GAMT IL17RA CALM2 MCTP2 FARS2 FAM126A TK2 MAGEL2 SYP ATN1 NSD1 DPAGT1 FOXRED1 PLA2G6 NDST1 FBLN1 PEX16 PEX10 SOX10 NOS3 IQSEC2 AP4M1 LNPK C9ORF72 HYMAI TMEM216 CISD2 GSS BUB1B GDF2 PRKAG2 MED12 PEX13 CLCN4 GABRG2 DNMT3A NEU1 MFSD2A ATIC SLC6A8 SERPINI1 FOXH1 KCNJ10 CPS1 NDUFA2 YWHAE GRIN1 PLCB1 COX3 GLRB COG8 MECP2 NDUFV2 LSS FBP1 TMTC3 USF3 CLN6 GCK TREX1 CERS1 XPR1 ACVRL1 HADHB H19 OTX2 NDST1 WAC SIK1 NDUFAF3 NDUFAF2 PRRT2 IL17RD CRIPT PCYT1A UNC80 PEX2 PEX10 RNU4ATAC FA2H PSEN1 GLI2 ADARB1 STX16 CLCNKB PIGB IBA57 CCDC141 TRAPPC9 UBTF SUOX RPGRIP1L IQSEC1 DOCK8 AQP2 RPL10 WDR26 HMBS NAXE GABRB2 PIK3CA UBA1 MYO5A ABCC8 DOCK7 INSR PLAGL1 GAS1 SAMD9 PIGH PSAP ERCC5 SLC33A1 USP18 PTCH1 STAT3 HYMAI COQ6 SLC1A4 SCN10A TREX1 RORB AHI1 COLGALT1 KAT6B MEFV STAG2 ISG15 POLR3A TDP1 POMK KDM3B CCDC88A PI4KA ARMC9 RDH12 ACADM IRAK1 TRAK1 FUT8 PEX12 BDNF COL4A2 ASXL2 KIF11 MSL3 HADHA TSEN2 UBE2A HNRNPK TRAPPC11 HIBCH PIGY ENG TGIF1 IDS CACNA1A AVPR2 MTHFD1 PROK2 SETD2 CTSF CCM2 SMARCD1 SOX2 ND5 ATAD3A PQBP1 TELO2 SHROOM4 JAM2 NUP107 HIVEP2 TP53RK GLRA1 TDGF1 ADNP GLI2 NFASC PEX5 TLR3 FRG1 SCN1B PGAP1 TBC1D24 SIX3 ATN1 LAGE3 KCNJ5 TMEM67 CEP41 VLDLR SASS6 TCF4 SYN1 PRRT2 CLCN2 ABCA2 ATRX ZBTB18 RPE65 RBM10 CC2D2A ADGRV1 MAP1B DPM1 NAT8L FGFR2 SCN1A CASR FOXG1 NFKB2 MED12L ALDH18A1 RPGRIP1 PEX11B LIAS SDHD SLC12A1 NAXD WFS1 HAX1 SELENOI ASAH1 GNAS ALG9 TGFBR3 GAMT CYP27B1 TUBGCP6 SPTBN4 ANKRD11 NTNG1 OSTM1 SLC17A5 ATP6V1A MRM2 NODAL PHF6 SLC6A1 IER3IP1 CHD1 SMAD4 IVD KDM6A CLPB TRNS1 KCNA1 NONO NALCN PIGC RAPGEF2 PIGU WDR45 NODAL TCF4 ND6 PEX6 TRNL1 ARHGAP31 NODAL GNE MEN1 CUL4B KCNQ2 DHCR7 TRAPPC4 DHX30 ZNF711 WARS2 NDE1 NECAP1 TBCE POMT1 PHF6 ARID2 PUM1 ASXL1 KCNMA1 FGFR1 ARX MBOAT7 NDUFAF3 SETD5 CILK1 TRNS2 CPA6 ITPA EIF2S3 TRNP RAB3GAP2 PEX3 NBAS GCSH DNM1 AMACR CTBP1 KCNJ6 TBC1D24 SNX14 MEGF10 ARX HUWE1 SCN8A SOX4 RAC1 SYNJ1 NFIA FGFR2 UBE3A BCOR EPB41L1 VARS1 POMT2 PSAP FGF8 PEX13 GAS1 TRIP13 GDI1 SCN10A CPLANE1 AP4S1 CRLF1 SMARCA2 CAMTA1 CEP290 NF1 NUS1 MYT1L CLEC7A CC2D1A GP1BB GLI3 SQSTM1 CYP27A1 PMM2 GABRD PAFAH1B1 CEP41 DLL1 GRIK2 TXNRD2 GABRG2 IKBKG PTEN FUCA1 PAH ARID1B PDHB RXYLT1 CLTC SLC12A5 RUBCN PIGW CCDC88C PSEN1 TLK2 SIK3 NOTCH1 PMS2 P4HTM PRRT2 SEC23B AP4M1 NDUFS8 CDON SLC2A1 TRPV3 DLG4 PPOX CHD1 SUMF1 SLC3A1 GDI1 BRAT1 CC2D2A PDGFRB PSEN1 PLPBP PTCHD1 SDHAF1 CAMK2A CREBBP TBL1XR1 NPAP1 ESCO2 NEDD4L GJA1 BCS1L MSX2 SCN3A TRNF NDUFB11 DOCK6 PLA2G6 KRAS SLC25A12 KNSTRN ARX PHOX2B CDK19 NDUFB8 KMT2E SLC5A7 BCL10 INPP5E CERT1 ATP5F1D PTPN22 USP7 GPC4 ARHGAP31 MAPRE2 NAGA CHMP2B RMND1 PUS3 COQ5 ZIC2 GBA ROGDI EEF1A2 PEX26 TDP2 ZNHIT3 PDCD10 PEX26 AIFM1 SCN11A ZMYND11 DISP1 TUBB2A SLC35A3 SPRY4 ATP1A3 KCNH1 PEX19 CDK13 CTC1 MED25 FOXH1 AP4E1 KCNC3 YWHAG AIP IKBKG PRTN3 SP110 ARID1A NAGA MED13 FRA16E SLC16A1 GP1BB TRNS1 FCGR2B LHX4 INPP5E CASQ2 GMPPA ABCD1 ATP1A2 AP4S1 KATNIP HCN1 MOCS1 YWHAG DSTYK NADK2 TSC1 PSAP TREX1 GRIA4 ALDOB PROP1 ZNF81 SMARCC2 ND5 IFIH1 KIF1A RPS6KA3 PHACTR1 NDUFS7 PLK4 FGFRL1 PODXL RNASET2 GCDH UGT1A1 AP3D1 SALL4 WDR37 NEDD4L CDK10 GLI3 PEX3 DYNC1H1 TRNF NPRL2 ALDH7A1 WDR62 CAMK2A FADD OTC C4A ACO2 TRNQ TOMM40 DIAPH1 KIAA0586 RAI1 MPDU1 SH2B1 KPTN MECP2 MECP2 LAMC3 SNRPN KDM6B SON FIG4 TRNS1 HNMT PDCD10 TBC1D24 GRIN2B PEX1 SLC25A15 DMXL2 HDAC8 LGI4 EPRS1 GRIN2D MFF KCNQ3 ASPA TRAPPC11 PRMT7 KCNQ3 ERCC2 JRK PRF1 FKTN MAP1B TBK1 SCN4B GBA TREM2 SMARCA4 GM2A MSH2 DHCR7 MMACHC KDM5C PIGG SDHB CAMK2B GMPPB SLC35A1 AMER1 GBA SPP1 KIF7 MYH3 KCNJ13 TBCD FGFR3 FOXP3 KIF5A TRNK PPT1 PLEKHG2 AKT1 TRNF THOC2 PEX5 NUS1 SOX5 BCKDHB SARS1 KANSL1 CEP120 PURA HMGCL SATB2 ACP5 TRAPPC12 DNM1 KAT8 TUSC3 ZFP57 CARS2 ALG13 PLAA PTH PCNT OFD1 TET3 KLHL7 CLTC CDON TYROBP ACTG1 PIGA NNT OTUD6B VCP EARS2 WDR26 CRX KCNB1 KDM6A DBT HS6ST2 SLC45A1 DEAF1 STRADA DPM2 PSMD12 STXBP1 SLC35C1 CLN5 ASXL3 PWAR1 SLC1A4 TRIP12 NUP133 TCF4 AGRN ALAD TGDS ERCC4 TMX2 SCN8A ASNS KCNMA1 FAM111A GLUD1 OCLN PEX16 NIPBL MTM1 SMAD4 LIPT1 LAMB1 TRNL1 FGFR1 HECW2 SETD2 PRODH TBR1 CDH15 LRP2 PHF21A ZIC2 B3GALNT2 ARSA NNT MANBA LINGO1 MID2 FLVCR1 NUBPL FA2H CDKN2C PIGN NDUFA10 MED12 ND2 SLC13A5 NHLRC1 UFM1 ADAT3 PSAP PPA2 CPOX APC2 TRAF7 KIF7 ADPRS PRNP PDE10A NSMF ARID1A CRLF1 TBX1 NSD1 ARG1 KCNN3 AIFM1 SMC1A PIEZO2 LMNB2 CREBBP FGFR3 TMEM237 CDH23 NDUFS7 PDGFB EML1 PDE6D ATP6V1A TMEM231 TBX1 ERCC6 MTFMT SLC19A3 EPCAM MECP2 PEX14 PGAP3 IL10 TULP1 GABRB3 NDUFS8 DEPDC5 GCK SCN9A SDHD EHMT1 ATP1A2 STRADA TRNF WASF1 NDUFAF5 NDUFB11 FOXP1 FUCA1 SDHB RNASEH2C NSD2 ROGDI FH NLGN3 ARFGEF2 NOTCH3 SYN1 PEX5 XPR1 PEX19 TUBG1 CRADD PDHA1 SMARCE1 CRBN ATP6V1A MPDZ NADK2 ARV1 POMGNT1 PERP COL1A2 FAM149B1 TRAPPC9 ND6 SIK1 ASL HESX1 SLC25A19 LGI1 AVPR2 TGIF1 NEUROD2 TRAF3IP2 ARFGEF2 TBX1 IDS KPTN ZNF41 KISS1R SSR4 MYH14 PIGP HNRNPU DDX3X TRNS1 STEEP1 ALG2 TRIM71 GABBR2 ASXL3 CIC TRAPPC6B DNMT3A CTSA GUF1 CPT2 EIF2B2 ATAD1 SC5D KCNJ11 SCN1A SUCLA2 IL23R COX2 COQ2 KCNC1 SRPX2 OFD1 TRAK1 POLG TSC2 RAI1 CHAMP1 PEX12 GAD1 HADH SCN8A TUBA8 CHD2 FGF8 GRIK2 SNRPN PROKR2 NDP STT3B CAMK2A TCF4 FADD TANC2 COL3A1 ATP1A1 CYFIP2 VARS2 TIMMDC1 EIF3F GCK POGZ TCTN3 KDM5C GLI3 SDHD SLC19A3 MANBA TAT SLC25A13 TDGF1 SMARCE1 POU3F4 SEMA3A HACE1 PARS2 LRPPRC IREB2 LIPT2 TERT ACOX1 MVK PPP3CA CACNA1D B4GAT1 PEX26 WDR45 GNB1 LAGE3 MOCS2 EHMT1 NF2 PURA NF2 DYRK1A GABRB3 TUBA8 HEXA NDUFS1 FAS SAMHD1 TBC1D24 PTEN TGIF1 CLP1 ARX MLC1 TRNK PCLO GABRD ABCC8 SCN2A FMR1 TPRKB TWNK ELOVL4 HGSNAT OAT TBC1D24 GNAQ MYO9A CYFIP2 KCNA2 LMAN2L SRD5A3 FRMPD4 IFIH1 FTO KCNJ11 CLPB COL13A1 GNAS TWNK OSGEP ATP6V1B2 SETD5 POMGNT1 CCR1 CRPPA HK1 UQCC2 COX2 EIF2B1 OFD1 GPR161 MED12L DYRK1A POMK PEX2 SCN8A FAS UPF3B CDH2 KIRREL3 UPF3B DUSP6 DHDDS OTUD6B POMC TRNT1 EFHC1 TGFB1 NDUFA9 HCFC1 CLN6 NPHP1 ANKH TECPR2 GLS GPHN NRAS ERAP1 ERCC6 ZDHHC9 FARSB RAB27A SLC1A2 PACS1 FCSK SZT2 RALGAPA1 ST3GAL3 ANK1 NIN JAK2 GLI3 PHOX2B FTSJ1 LYST GBA SLC25A22 LETM1 STX1B COX4I1 PGAP1 CLN8 NEUROD2 HERC2 IGF2 MBTPS2 HPRT1 ATIC GNAQ GNAS KLRC4 DNASE1 PREPL ACADM TRAPPC2L FAR1 PROKR2 FMN2 PIGN IQSEC2 TBL1XR1 NLGN4X IDH2 MVK DLK1 GUCY2D GM2A NDUFAF8 GNAO1 BCORL1 NTNG2 GTF2E2 KLHL15 SYNJ1 CSNK2B SGSH KCNT1 RNU12 TRAPPC4 VPS11 CACNA1B MED12 CDKN1A ALG1 TXN2 CRADD KIFBP TANGO2 GRIA3 GRIN1 MIPEP GP1BA PEX1 GABRG2 ARHGEF6 COX3 COX7B ERCC3 DYNC1I2 ACOX1 KCNAB2 CTNS ANGPTL6 TRIO SPR PAH OSTM1 DISP1 ANKLE2 EZR GABRB1 NTRK2 CDKL5 ACSF3 KMT2D SPG11 SLC6A5 NOTCH2NLC EEF1A2 PET100 KCNA1 CLTC PEX3 FEZF1 IARS1 ERCC6 MAGEL2 MC1R SLC2A1 TRNK NDUFAF4 C12ORF57 IQSEC2 AMT TECPR2 SLC9A7 KRAS PIGY KIF2A RAB39B ATP2A2 FRMPD4 D2HGDH MGP TRDN SPINK5 NHLRC2 NGLY1 GNAS PGAP2 LARP7 STARD7 STAG1 RYR2 CCND2 UCP2 RPL10 CEP85L CTNNB1 ANO10 WDR45 PACS1 NELFA NAA10 NTRK2 FDXR NLRP3 KCNJ11 STXBP1 PAX2 ND1 FXYD2 ATP1A3 PIK3CD ARSA ASS1 USP9X POLG PSAP AIMP1 HLA-DPA1 GUCY1A1 SETBP1 ATP10A MSX2 SVBP ADAM22 CPS1 ATP6 DCX FKRP PURA GPC1 CYP27A1 PROKR2 EBP ARHGDIA SIM1 L2HGDH SCN1A NACC1 ROBO3 SDHA NF1 PHGDH ACTL6B RAC3 TREX1 ATP6V0A2 MYO5A MORC2 STT3B POLG2 MEF2C SCN3A TRAF3 SLC19A2 ATN1 MTHFR HLCS CD96 SATB2 KIF5C ERCC8 HLA-DPB1 DLD PEX2 VPS11 CFHR1 FOXH1 CLCN4 GABRA5 SURF1 MECP2 KMT2C SLC25A20 SERAC1 HRAS AKT1 RNR1 TSC1 MEN1 TRMT10A NIPBL ACOX1 ARX SLC1A2 MBD5 ATP6 PTRH2 KMT2A CCDC115 GAS1 PROP1 METTL23 SLC13A5 ACTB TRNW B4GAT1 FBP1 CTLA4 TUBB3 PDE4D MRAP ADAMTS3 SOX10 ERCC3 DNM1 CBS NCAPD3 DAG1 KDM5B COG8 CDH23 FGFR2 ISCA1 CDON CLN3 FKTN DPM1 TPP1 KCNJ1 FGFR1 ASPA PHACTR1 VPS51 DISP1 ATP6AP2 LSS MFSD8 TMEM70 NDUFAF6 SPTAN1 STAT2 GABRA2 ARL6IP6 CHD2 CYP27B1 GALC ERCC1 LIG4 FKTN NF1 PDGFB GYS1 FAS NAGS PAK3 RTTN TCIRG1 KCNA2 EEF1A2 CDH15 DPYS TDGF1 KDM5B PSEN2 TMEM216 CACNG2 NFIX FTSJ1 RFT1 COX15 PCDH12 SLC35A2 CNPY3 FGF8 CDKL5 POMT2 COX1 STXBP1 ABCC8 CTLA4 FLI1 MAPK8IP3 MMADHC DPYD GPHN PRRT2 ARSA ERCC2 WDR4 AP4B1 EXT2 ROBO1 GTPBP2 KMT2A MTRR CYB5R3 STXBP1 IPW ASCL1 GATA6 DIP2B ARNT2 HTRA2 AP2M1 CHD8 CNPY3 GTPBP3 AUH FGF8 SNRPN SLC45A1 STAG2 LMX1B KCNA2 ADSL HNF1A L1CAM LONP1 ZC3H14 DCPS SAMD12 KIF1A HTT SLC25A15 KCNJ10 CXCR4 ERCC8 UNC80 PGAP3 ACADSB MEFV COQ9 GJC2 WDR81 KCNQ2 SUCLA2 RNASEH2B GABRG2 GRIN2B SLC44A1 KCNA1 NOTCH3 TICAM1 HERC2 CYTB MAF TRPM3 CTNNA2 ALG3 ABCC8 TUBGCP4 CASK NPC1 FTL POMC EFHC1 FAM111A NDUFS2 DBH ALG6 NDUFS1 UBA5 MMAA AP2M1 CALM3 PEX6 ZFYVE26 GUF1 FARS2 ATP7A HTT ZIC2 RNF213 NPC2 PRRT2 PIGV ALMS1 HTT FGF8 LINS1 KDM6A GPC3 DHDDS FRRS1L PEX14 DYNC1H1 CYP26C1 FKRP MAGEL2 SYNGAP1 PQBP1 COG5 ETHE1 DNASE1L3 RASGRP1 GRM1 CHD7 CCDC141 NSDHL PROC KLLN IARS1 OTX2 ZNHIT3 STX1B DHFR GAS1 FBXW11 SCN2A ACTA2 PTCH1 ATP6AP2 STUB1 EPG5 GLI2 LBR NDE1 HIC1 ARID1B ZBTB18 BRAF BCOR FLNA IL12A CPA6 MMUT CLDN16 IQSEC2 POLG2 IL17RC PRRT2 GNAQ SCYL2 ALG11 SMARCA4 KIAA1109 SET CLP1 PIGM XPC PMPCB MKRN3 CD96 L1CAM PNPLA8 ATAD3A TXN2 NDP ECM1 EIF2B5 ADGRG1 OTX2 FMR1 PLP1 VAMP1 PAH RTL1 IQCB1 CAMK2B MYO5A TWNK PROKR2 PLPBP POLE NECAP1 FGFR3 TBCE SCARB2 ASH1L UPB1 GABRA1 PIGL CACNA1A SLC2A1 MDH1 PEX10 WDR73 SLC46A1 DHPS JMJD1C RSRC1 KCTD7 CPT2 GLI2 BUB1 ERLIN2 TMEM106B GMPPB CILK1 SHROOM4 NRXN1 KCNT2 IL12B OCLN SLC2A1 GEMIN4 UFC1 ALG3 TMEM237 TNIK TBX1 PIGT STAMBP TMLHE KLF13 FKRP KAT6B FLNA HCCS NOTCH1 FOXA2 MPLKIP STXBP1 KCNK4 CDH11 GLDC TIMM50 PLAA MADD GCDH ADA2 PEPD MYT1L BMP4 GTPBP3 CTSD KRAS CCM2 TRMT10A PTCH1 DARS2 EP300 GNAO1 CDC42 CDKL5 TANGO2 SNX14 AKAP9 PIGO STAT4 COL4A1 RHOBTB2 BPTF KCTD7 SIN3A GNB1 SLC6A19 TBCE SMARCB1 SNRPN SOX10 KCNMA1 BRAT1 NSUN2 ARX ZMIZ1 ANK2 WDR4 RNF113A HNRNPK MBTPS2 PRSS12 FASLG NDE1 ALDH4A1 SLC39A8 PNPO TAF1 ATRX DOCK7 RAB39B DCC SMARCC2 DEAF1 NSDHL SCN1A PLA2G6 TUBB3 PSAT1 ADGRG1 PSMD12 ATP6AP1 PCDH19 MLH1 HEPACAM POGZ GABRA1 IMPDH1 PIK3R2 IQSEC2 BPTF LAS1L PPP2CA RARS2 LONP1 GRIN2D ARCN1 PIGV HESX1 BCOR POLG CLCN2 ARSA SLC12A3 ARX GYS2 NEU1 GABRA1 MACF1 TGIF1 SETBP1 ATP1A2 CFH UBE3A ERLIN2 CPLANE1 PEX6 ZMIZ1 HDAC4 TSC1 SCN2A PIGQ TP53 MPDU1 ATP1A3 AKT2 GOT2 CHRNA2 ATR MYO1H SETD1B RPL10 CACNA1A CNTNAP2 CLIC2 GABRD SEMA4A HTT GABRB3 SCN2A EHMT1 TRIM8 RAB11B FIG4 LAMB1 MKS1 DOCK3 TRNS2 SMS SETBP1 SURF1 TFAP2A MC2R NDUFA1 UFD1 GDF6 ARL13B ASAH1 DHX16 HNRNPH2 CENPE GLS DNAJC6 GBA MECP2 SHANK3 GCM2 ATRX FLVCR2 SNTA1 CACNA1A LAMB3 SMS ERCC6 ACTL6B KMT5B KANSL1 GRIN2A PTCH1 EIF2AK3 SCN1A NR2F1 POMT1 ARV1 RAB18 SLC1A3 PLCB1 DNAJC19 TDGF1 ATP13A2 SEPSECS TRAPPC12 PEX5 FGFR1 CUX2 CHD2 RAI1 NDUFS2 BCKDHA MYRF CDKL5 PHKA2 HTRA1 STXBP1 CPT1A ZEB2 PIGO SMC1A PIBF1 PCCB SCN1A SPTAN1 KCNQ2 LARS2 SIX3 NALCN OCRL GPHN CTU2 METTL23 PEX16 HSD17B10 SMC3 PDX1 PEX19 MICAL1 IQSEC1 DIS3L2 TLR3 PRNP RAB11A DLL1 RBPJ HIVEP2 SHH CPT2 DPH1 TMEM94 PIGG TBCK ADAR MTRR HDAC8 MLH3 ITGB6 TSEN15 COL4A1 SRPX2 STAG2 GFM1 COL18A1 ALG13 BUB3 ALDH5A1 AQP2 STT3A KIF1A NSD1 BOLA3 C12ORF4 GABRD TRIP13 MEG3 TREM2 KMT2C DDX3X ADGRV1 NARS2 BCR PIGS RSRC1 RNF125 PSPH SCN3A GLB1 AHDC1 ABCC8 CNNM2 SNAP25 CENPJ DLL1 LAS1L EXTL3 CHRNB2 DHDDS COMT EXOSC3 SLC25A42 MYORG KAT6A AAAS ARX EMG1 CDK19 NECTIN1 PDSS2 RELN RAB27A L2HGDH LARGE1 FCGR2A RPS6KA3 YEATS2 IRF3 AUTS2 CYTB TMEM67 ABCD1 ADAMTSL2 FOLR1 IL1RAPL1 GRIA3 MTHFS OCA2 LHX1 TGIF1 PIGN PROK2 TRNH PAFAH1B1 INPP5K GNE APP PCYT2 ALG13 ACADS ATP6V0A2 NSUN2 AGTR2 EPG5 ERCC6 PRPS1 DDB2 CASK CNNM2 KIF11 SHH ARID1B CACNA1C ARL3 GABRG2 MTOR HACE1 OSGEP LAMA3 POMGNT1 SHH PRKDC MED13 RORA ACSF3 ARX SLC1A3 GJC2 SAMD12 AKT1 LMBRD1 TTR AARS1 PDSS2 NDUFA2 NDUFAF2 KCNJ11 CTNNB1 CEP120 AIMP1 PTEN CPT2 CPLX1 NDN AP3B2 RAB39B DLL1 RAB39B PRDX1 KCNQ5 TGFBR2 PRPS1 FKRP MTR MECP2 SPAST GPAA1 GRIN2A SLC13A5 IFT140 KCNE1 HIRA ACTG1 SVBP B3GALNT2 ARMC9 HOXA1 BAP1 STXBP1 MEN1 COX1 CSPP1 HSD17B4 SIX3 FOXG1 EXTL3 MCCC2 THOC2 MEF2C PET100 MOGS ACTB SOX11 MSX2 GNB5 EGF USP9X ND4 CKAP2L GABRG2 POLG PTS SCN9A MLYCD CHKB SON HESX1 ACTL6B RANBP2 NRAS GABRB2 TRNL1 KCNQ5 PCK1 NOTCH2NLC AKT3 HPDL GFAP NRAS DNAJC5 PEX2 MRPS22 FRRS1L OPHN1 PCCA QARS1 TDGF1 NTRK2 HNRNPU PACS2 GLA HSD17B10 TRNW ST3GAL3 NF1 NPRL3 RARS1 SHH RUBCN ADSL CASK TRNV TANC2 NUS1 SYNGAP1 NEXMIF DENND5A NFIX TRNL1 SLC12A3 GALC RNF13 OCRL SLC17A5 TOE1 FGFR2 SLC25A4 NAGA MGP SCN5A ARG1 GBA TMTC3 TSPAN7 SLC35C1 ARX TSEN54 SLC35A2 VPS13A AHSG NDUFA12 ADK GRIN2A SLC25A20 POU1F1 TRNH AKT3 GABRA5 AMPD2 SNRPN ADRA2B SLC22A5 FGF17 SCN2A DEAF1 CNKSR2 USP45 FGFR1 STAR TRMT1 HUWE1 PDP1 DNM1L UBE3A AFG3L2 EGF MAST1 GNAS TAOK1 GATA6 SIN3A POMGNT2 JAM3 GRIN2A ND1 CBS MARCHF6 KMT2D DLG3 TBCK WDR73 SUFU NF2 MICOS13 ACAT1 CASP10 KIF4A PAK3 ZSWIM6 GATA3 APP CNOT1 DALRD3 SPR ZEB2 TRIO CHN1 QDPR GLE1 PIK3R2 EBP PGK1 KCNH1 MED12 SLC2A3 PLP1 RAC1 FGFR3 KIF15 TRNQ SLC20A2 MECP2 SLC25A22 ND3 CACNA1H CLCF1 PDHA1 TNFRSF11A TMEM231 GLA FBXL4 ASXL1 LARS1 GMPPB KCNT1 MED17 NSD2 HS6ST1 DPF2 HADH PIK3CA SCN1B AP3B2 DDX6 APP RELA SRPX2 PTCH1 CA8 GPAA1 NHLRC1 SYP ZSWIM6 NDUFV1 WASHC4 TRAF7 GJC2 CDON ST3GAL5 RNASEH2A CIC ODC1 FGFR1 POLR3A GPT2 TWIST1 NDUFA13 GABBR2 BCORL1 PIGW NDUFA4 ACSL4 FOXH1 COG7 SCN2A NEK9 STS COG4 ABCC8 MID2 PAFAH1B1 MPC1 TBCD PSAP ABAT ALDH5A1 COX8A GP9 PTEN PYCR2 GATAD2B NACC1 TBCE NUP214 ASH1L DISP1 TCTN2 TACR3 TBCE GLYCTK TSC2 PEX14 KANSL1 NOVA2 TRNP EIF2AK2 MAPK1 IFNG NDUFS3 HNF1B FASTKD2 NDN ND5 TCF20 COG2 IDS PANK2 MC2R FAM149B1 DPM2 OPHN1 NAGS OCA2 FLCN ALG11 NANS DYRK1A RPS20 ARNT2 HLCS LYST NDUFA11 SMO NONO SNRPN CSTB SCN9A AFG3L2 CASQ2 SLC25A1 ZNF142 MAN1B1 IL1RAPL1 SLC39A8 ATM PTRH2 POLG ZNF423 FMN2 UGDH FAM111A TUBB2B PSPH CTH PIGL FGFR1 RD3 NDUFB8 CACNA1C SCN9A NDUFS6 FBXO31 ABCA5 ACY1 B9D2 COQ4 VPS13A ARHGEF9 BMP2 ZBTB20 CSNK2B TBX19 HERC1 DNM1L METTL5 POMT1 GRIN1 TUBB2B NEXMIF CSNK2A1 MTOR SARS1 GATA4 TRAPPC9 SNORD116-1 TMEM165 CAD MN1 POLR2A NDUFAF5 SGPL1 GRIN1 RRM2B KRIT1 CDKL5 SETD1A POLA1 SMARCB1 TRNT PPP2R1A SURF1 CALM1 SIX3 TWNK UNC93B1 TP53 SMPD1 PRUNE1 BSCL2 B3GALNT2 PSMB8 STAG2 CRKL LMAN2L CACNA1D ATM CDKN2B KRIT1 SZT2 CHRNA4 CLN8 SLC2A1 KCNQ3 COL18A1 RPS6KA3 MRPL12 MMACHC GOSR2 TCTN1 CDON SRPX2 NMNAT1 KCNJ11 NDUFV1 SMC1A FOXRED1 AVPR2 ARF1 OPA1 MARCHF6 CACNA1B COG6 TRNQ BCL11B GABRB3 PRDM16 EDC3 UBE3A ADGRG1 ACTL6A HEPACAM TK2 ZIC2 VLDLR UBE3A PRRT2 ERCC2 PTPN23 TRIT1 LARGE1 EXT2 HADHA ALX4 USP27X UBTF GPSM2 TUBA1A NUP133 KCNJ6 RERE MAPT CEP290 ZC4H2 SKI TMEM237 ASPA LAMA2 PIK3CA LARGE1 DCC PRDM8 EOGT ANKRD11 ALPL TRNW SMC1A POMT2 KCNE2 SLC46A1 MTFMT RTTN CHAT SDHC SEC31A KRAS TLR4 TBCE COX7B SLC25A1 RAB3GAP1 PTCH1 KCNH1 TBX19 B3GALT6 YEATS2 MYT1L FAM50A GLI2 PDHA1 GAS1 PCDH19 CSF1R TBP COQ8A NIPA1 SLC6A1 AP4E1 ANOS1 ANK3 SMARCE1 LCA5 SET ATP7A GLUL KCNQ1 TMEM106B PEX6 SLC6A19 MAGEL2 WARS2 EBF3 DGUOK STAT4 FITM2 WWOX GTF2H5 TRNV FAT4 LRP2 CYB5A TSEN54 ALDH3A2 PIGC ALG1 MOGS MAPK10 PIGP UBA5 RELN COQ8A UBAC2 MAP2K1 SCN1B NIPA1 SCN1B CARS2 PARS2 TMEM138 PHOX2B BMPR1A MMADHC RBM8A ARF1 ALKBH8 CFHR3 MTHFR NDN TMEM70 SLC12A6 POMT1 TDP2 BCKDK CACNB4 DHCR24 CREBBP SMPD4 ALPL SNAP29 NKX6-2 RECQL4 AUH NAGLU TRNL1 RET TRMT1 TDP1 PEX5 NRROS SNRPN AKT1 ACVR1 RERE TP53RK ARX ERLIN2 TBK1 ND5 GNAO1 SYT2 NDNF HSD17B10 PPP3CA B9D1 WHCR DLG3 GFM2 HPD NAA10 STXBP1 SARDH ND6 IVD HLA-B FGFR3 EP300 MAGEL2 GMPPB NDUFS4 MFF HCFC1 INPP5E GMPPB RELN SETBP1 TRAPPC11 CRB1 MECP2 NODAL GRM7 ATAD1 VDR ERCC4 PYCR2 RFT1 HDAC8 USP7 TREM2 ATP6V1B2 CTNND2 FLII CLIC2 CPT2 ATP6 ABCC9 DHCR24 COA8 CLTCL1 TOE1 TMEM67 AP1S2 RLIM NEU1 ASAH1 PIGQ CLN8 INS HLA-B FGF12 BTD SDHA
Protein Mutations 1
A147T
HP:0001369: Arthritis
Genes 273
NLRP3 PSMB4 ACP5 SLC37A4 PTPN22 MIR140 LMNA HGD COL1A1 MMP13 FRZB MMP14 COL9A3 NTRK1 ARVCF PTPN22 LMX1B HPRT1 GBA HLA-C PFKM ABCG8 TNFRSF1A IL2RB RREB1 NLRP3 HPGD TF BTK JMJD1C COPA COL2A1 PIK3CD EXT1 COMP TBX1 IL12B STAT4 TNFRSF11B IL10 TBX1 GJB6 LRP6 IL2RA TRPV4 MUC1 WIPF1 COMP MMP13 GJB2 PSTPIP1 RNASEH2C HPRT1 DCLRE1C HIRA GP1BB TRAPPC2 IRF5 IL6 ATP7B EPCAM CLCN7 SEC24C HJV IL36RN COL3A1 KIF7 SLC37A4 GHR NLRP12 STAT4 SPTA1 MLX COL11A1 SLC40A1 HPGD PTPN2 SMAD3 IGLL1 COL9A1 PTPN22 SLC22A4 FGFR3 COL2A1 UMOD CCN6 IDS TCF3 PRPS1 IGHM MYH14 CD79A PIK3R1 FASLG COL1A1 HNF1B CD79B NLRP3 ASAH1 HLA-DRB1 PRKCD ANKRD55 HLA-B COL5A1 CCR6 DNAJB11 COL2A1 MATN3 IL23R KNSTRN GLA F8 PTPN22 RAG1 RNF168 COL5A1 PTPN2 COL11A2 TREX1 TFR2 COL11A2 SLC26A2 UMOD SLC12A3 FAS CD247 EPB42 VPS13A EXT2 NOD2 COL11A2 CLCN7 NOD2 HGD ZNF687 CLCNKB FCGR2B TLR4 IL2RA MVK COMP CTLA4 TREX1 MEFV CAV1 IFIH1 ANKRD55 WAS AGA MATN3 NLRP3 CFI FAS COL9A2 SAMHD1 UFD1 SH3KBP1 HNF1B ASAH1 LACC1 G6PC1 TNFRSF1A MEFV TRAPPC2 CASP10 ANKH STAT4 UFSP2 TRPV4 SMAD3 COL2A1 MYD88 GPR101 IRAK1 C4A HPRT1 ZMPSTE24 ACAN STAT4 CCR1 GCH1 UBAC2 BTK HFE CD247 AIP HPGD MEFV ACAN UFSP2 RNASEH2B FAS PSMB9 MTHFD1 COL2A1 GDF5 PSTPIP1 SLC4A1 RAG2 PADI4 OCRL PHEX COL9A1 COL9A3 MIF ANKH ERAP1 KIF22 SCARB2 SPP1 CANT1 MMP2 ADA2 LBR HLA-DRB1 PTPN22 FOXP3 PRPS1 CCN6 ADAR IL2RB NLRP3 GNAS COMP COL2A1 HPRT1 FBN1 KLRC4 DNASE1 ACP5 PHEX HLA-B RNASEH2A LEMD3 HOXD10 SPTB BTK HNF4A DNASE1L3 RASGRP1 ATP7B IL10 ASPN HLA-DRB1 PRKCD MVK LRRC8A IL12A-AS1 APOE ACAN LRBA AEBP1 CCN2 CIITA COMT BLNK SEC61A1 COL9A2 ANK1 COL5A2 CTLA4 PRG4 MATN3 IL12A CD244 TGFB3 FCGR2A F9 NFKBIL1 SLCO2A1 TRPS1 HLA-B IDS
Protein Mutations 4
A147T N363S R620W V600E