SNPMiner Trials by Shray Alag


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Report for Mutation F64L

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers

This study is an online (web-based) or paper-based survey for patients with transthyretin familial amyloidosis polyneuropathy (TTR-FAP) and caregivers. The results will be used to describe the emotional, physical, and financial impact of having TTR-FAP or caring for someone who has the disease.

NCT01604122 Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) Transthyretin Cardiomyopathy (TTR-CM) Familial Amyloid Cardiomyopathy Senile Systemic Amyloidosis (SSA) Other: No drug Other: No drug
MeSH: Polyneuropathies Amyloid Neuropathies Cardiomyopathies Amyloidosis, Familial Amyloidosis
HPO: Amyloidosis Cardiomyopathy Motor polyneuropathy Polyneuropathy

In this outcome, number of participants with each type of resulted mutation type (Val30Met, wild type TTR, Phe64Leu, Ser77Tyr, Thr60Ala or other than these) were reported. --- Val30Met --- --- Phe64Leu ---

Primary Outcomes

Description: Main characteristics included were education level and employment status which were asked from all participants and caregivers. Type of job (full-time, part-time) was asked only from those participants and caregivers who provided their employment status as employed. Those who were unemployed reported their cause of unemployment, whether it was due to ATTR or not.

Measure: Demographical Characteristics of Participants

Time: Baseline (Day 1)

Description: Duration of disease was defined as the time from diagnosis of disease until baseline visit. This outcome measure was planned to be assessed for reporting arm of participants diagnosed with ATTR.

Measure: Disease Characteristics of Participants: Disease Duration

Time: Baseline (Day 1)

Description: Genetic mutation leads to misfolding of protein transthyretin (TTR) which results in ATTR. In this outcome, number of participants with each type of resulted mutation type (Val30Met, wild type TTR, Phe64Leu, Ser77Tyr, Thr60Ala or other than these) were reported. This outcome was planned to be assessed for reporting arm of participants diagnosed with ATTR.

Measure: Disease Characteristics of Participants: Mutation Type

Time: Baseline (Day 1)

Description: TTR protein is primarily synthesized in the liver. Liver transplantation was considered as one of the measure to eliminate the main source of variant TTR. In the study, participants who were diagnosed with ATTR were asked for their liver transplantation status (whether they had transplantation or not). In this outcome measure, number of participants with liver transplant status were reported. This outcome was planned to be assessed for reporting arm of participants diagnosed with ATTR.

Measure: Disease Characteristics of Participants: Liver Transplantation Status

Time: Baseline (Day 1)

Description: Family history of participants diagnosed with ATTR was assessed to determine whether family history of ATTR was a significant risk factor for ATTR or not. This outcome was planned to be assessed for reporting arm of participants diagnosed with ATTR.

Measure: Disease Characteristics of Participants: Number of Participants With Family History of ATTR

Time: Baseline (Day 1)

Description: Mobility, i.e., ability to walk was assessed as a part of loss of functioning in the participants diagnosed with ATTR. In this outcome, number of participants with their different mobility status along with the use of mobility aids (able to walk normally, some problems with feet but able to walk without difficulty, some difficulty walking but can walk without help, confined to bed all the time, need 1 cane or crutch to walk, need 2 canes/crutches or a walker to walk) were reported.

Measure: Disease Characteristics of Participants: Mobility Status

Time: Baseline (Day 1)

Description: SF-12 was a patient reported outcome survey that represented overall health status by measuring 8 health-related aspects of an individual: Body pain, general mental health, perception of general health, physical functioning, role limitations caused by mental condition, role limitations caused by a physical condition, social functioning, and vitality. The score range for each of the 8 health aspects was from 0 (poor health) to 100 (better health), higher scores indicating good health condition. Responses on the SF-12 were also used to calculate 2 summary scores: Physical component score (PCS) and mental component score (MCS). The score range for each of these 2 summary scores was from 0 (poor health) to 100 (better health), where 100 indicated good health condition.

Measure: 12-Item Short-Form Health Survey (SF-12) Scores

Time: Baseline (Day 1)

Description: HADS: participant rated 14-item questionnaire with 2 subscales; HADS-anxiety scale (HADS-A) and HADS-depression scale (HADS-D). HADS-A assesses state of generalized anxiety (anxious mood, restlessness, anxious thoughts, panic attacks); HADS-D assesses state of lost interest and diminished pleasure response (lowering of hedonic tone). Each subscale comprised of 7 items and the participant responds as to how each item applies to him/her over the past week prior to baseline visit, on 4-point response scale. Separate scores were calculated for anxiety and depression with score ranges from 0 (no presence of anxiety or depression) to 3 (severe feeling of anxiety or depression). Total score range was from 0 to 21 for each subscale; higher score indicating greater severity of anxiety and depression symptoms.

Measure: Hospital Anxiety and Depression Scale (HADS): Depression and Anxiety Subscale Scores

Time: Baseline (Day 1)

Description: EQ-5D-3L: participant rated questionnaire to assess generic health status in two parts: single utility score and visual analog scale. For utility score, participants rated their current health state on 5 dimensions: mobility, self-care, usual activities, pain and discomfort, and anxiety and depression with each dimension having three levels of function: 1 indicates no problem; 2 indicates some problem; 3 indicates extreme problem. Scoring formula developed by EuroQol Group assigns a utility value for each domain in the profile. Score was transformed and results in a total score range of 0.05 to 1.00; higher scores indicating a better health state.

Measure: Euro Quality of Life (EQ-5D-3L)- Health State Profile Utility Score

Time: Baseline (Day 1)

Description: EQ-5D: participant rated questionnaire to assess generic health status in two parts: single utility score and visual analog scale. The VAS component rated the current health state on a scale ranging from 0 (worst imaginable health state) to 100 (best imaginable health state); higher scores indicating a better health state.

Measure: Euro Quality of Life (EQ-5D-3L)- Visual Analog Scale (VAS) Score

Time: Baseline (Day 1)

Description: The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asked about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Percentage of work time missed of participants were recorded and reported.

Measure: Work Productivity and Activity Impairment- Specific Health Version (WPAI-SH): Percent of Work Time Missed

Time: Baseline (Day 1)

Description: The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asks about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Component scores included percent work time missed due to the health problem; percent impairment while working due to problem; percent overall work impairment due to problem; and percent activity impairment due to problem. The computed percentage range for each sub-scale was from 0-100, where higher numbers indicating greater impairment and less productivity.

Measure: Work Productivity and Activity Impairment- Specific Health Version: Percent Impairment While Working

Time: Baseline (Day 1)

Description: The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asked about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Component scores included percent work time missed due to the health problem; percent impairment while working due to problem; percent overall work impairment due to problem; and percent activity impairment due to problem. The computed percentage range for each sub-scale was from 0-100, where higher numbers indicating greater impairment and less productivity.

Measure: Work Productivity and Activity Impairment- Specific Health Version: Percent Overall Work Impairment

Time: Baseline (Day 1)

Description: The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asks about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Component scores included percent work time missed due to the health problem; percent impairment while working due to problem; percent overall work impairment due to problem; and percent activity impairment due to problem. The computed percentage range for each sub-scale was from 0-100, where higher numbers indicating greater impairment and less productivity.

Measure: Work Productivity and Activity Impairment- Specific Health Version: Percent Activity Impairment

Time: Baseline (Day 1)

Description: Healthcare resources use survey of participants diagnosed with ATTR and caregivers was assessed by questions concerning a variety of different types of treatment and resources including outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (for example, costs of travel to receive care).

Measure: Healthcare Resource Use Survey: Number of Outpatient Visits to Healthcare Providers

Time: Baseline (Day 1)

Description: Healthcare resources use survey of participants diagnosed with ATTR and caregivers was assessed by questions concerning a variety of different types of treatment and resources including outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (for example, costs of travel to receive care).

Measure: Healthcare Resource Use Survey: Number of Hospitalizations

Time: Baseline (Day 1)

Description: Healthcare resources use survey of participants diagnosed with ATTR and caregivers was assessed by questions concerning a variety of different types of treatment and resources including outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (for example, costs of travel to receive care).

Measure: Healthcare Resource Use Survey: Number of Emergency Care Visits

Time: Baseline (Day 1)

Description: Healthcare resources use survey of participants diagnosed with ATTR was assessed by questions concerning a variety of treatments and resources included outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs. Number of participants (diagnosed with ATTR) who visited non-medical practitioners (nutrition consultant/dietician, chiropractor, acupuncturist, massage therapist, occupational therapist or other than these) for symptomatic treatments were reported.

Measure: Healthcare and Resource Use Survey: Symptomatic Treatment of Participants

Time: Baseline (Day 1)

Description: Healthcare resources use survey of participants diagnosed with ATTR was assessed by questions concerning a variety of treatments and resources included outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs. Number of visits of participants (diagnosed with ATTR) who visited non-medical practitioners (nutrition consultant/dietician, chiropractor, acupuncturist, massage therapist, occupational therapist or other than these) for symptomatic treatments were reported.

Measure: Healthcare Resource Use Survey: Number of Symptomatic Treatment Visits

Time: Baseline (Day 1)

Description: Healthcare resources use survey of participants diagnosed with ATTR was assessed by questions concerning a variety of treatments and resources included outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (expenditure on nutritional supplements, non-prescription medications and travel to receive medical care).

Measure: Healthcare Resource Use Survey: Out-of-Pocket Costs

Time: Baseline (Day 1)

Description: Participants diagnosed with ATTR rated their pain due to the health condition based on 3 items: pain right now, average pain in the past week, and worst pain in the past week prior to baseline visit. All 3 items were rated on an 11-point numeric rating scale ranging from 0=none to 10=severe pain, where higher scores indicated severe pain.

Measure: Participants Pain Score

Time: Baseline (Day 1)

Description: Norfolk QOL-DN: 35-item participant-rated questionnaire used to assess impact of neuropathy on the quality of life of participants diagnosed with ATTR. Scoring was based on 35 questions that yield a TQOL as well as 5 subscale scores: activities of daily living, large fiber neuropathy/physical functioning, small fiber neuropathy, autonomic neuropathy, and symptoms. TQOL= sum of all the items, total possible score range= -2 to 138, where higher score=worse quality of life. This outcome measure was planned to be analyzed only for the reporting arm of participants diagnosed with ATTR.

Measure: Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) Total Quality of Life (TQOL): Total Scores

Time: Baseline (Day 1)

Description: Norfolk QOL-DN: 35-item participant-rated questionnaire used to assess impact of neuropathy on the quality of life of participants diagnosed with ATTR. It was summarized in 5 domains: (1) Activities of daily living (score ranges from 0 to 20, where higher score=worse quality of life); (2) Large fiber neuropathy/physical functioning (score ranges from -2 to 58, where higher score=worse condition); (3) Small fiber neuropathy (score ranges from 0 to 16, where higher score=worse condition); (4) Autonomic neuropathy (score ranges from 0 to 12, where higher score=worse condition) and (5) Symptoms (score ranges from 0 to 32, where higher score=less symptoms of disease). Total possible score range= -2 to 138, where higher score=worse quality of life. This outcome measure was analyzed only for the participants diagnosed with ATTR.

Measure: Norfolk Quality of Life-Diabetic Neuropathy Total Quality of Life: Subscale Scores

Time: Baseline (Day 1)

Description: KCCQ was a 23-item participant-completed questionnaire that assessed health status and health-related quality of life (HRQoL) in participants with heart failure. It was quantified in to following 10 summary scores: physical limitation, symptom frequency, symptom severity, and symptom stability, total symptoms, quality of life, social interference, self-efficacy, overall summary and clinical summary. Each summary score was scaled to range from 0 (minimum) to 100 (maximum), with higher scores representing greater disability. Total score ranged from 0 to 100, where higher scores indicated better functioning, fewer symptoms, and better disease specific quality of life.

Measure: Kansas City Cardiomyopathy Questionnaire (KCCQ) Scores

Time: Baseline (Day 1)

Description: ZBI was a 22-item questionnaire designed to evaluate five broad aspects of caregiver burden in terms of personal and role strain associated with caregiving. Five broad aspects were: burden in the relationship, emotional well-being, social and family life, finances, loss of control over one's life. Each item rated on a 5 point scale anchored at 0 for "never" and 4 for "nearly always." Total score ranges from 0-88 with higher scores indicating increased burden of care.

Measure: Zarit Burden Interview (ZBI): Total Scores

Time: Baseline (Day 1)

Description: A questionnaire designed to evaluate aspects of caregiver burden in terms of personal and role strain associated with caregiving. Total score of ZBI scale ranges from 0-88 with higher scores indicating increased burden of care. Five subscale scores were also calculated: (1) Burden in the relationship (consist of 6-items, ranging from 0 to 24 where higher scores indicating increased burden in relationship); (2) Emotional well-being (consisting of 7-items, ranging from 0 to 28 where higher scores indicating worse condition; (3) Social and family life (consisting of 4-items, ranging from 0 to 16 where higher scores indicating worse life condition); (4) Finances (consisting of a single item, scored from 0 to 4 where higher scores indicating worse financial condition); and (5) Loss of control over one's life (consisting of 4-items, ranging from 0 to 16 where higher scores indicating worse control over life).

Measure: Zarit Burden Interview: Subscale Scores

Time: Baseline (Day 1)

Description: Caregivers completed a series of questions related to the number of hours per week spent on providing care and support to the participants diagnosed with ATTR.

Measure: Caregiver Burden Items Assessment: Number of Hours Per Week Spent in Care of the Participants With ATTR

Time: Baseline (Day 1)

Description: Caregivers completed a series of questions related to the loss in their working time while providing care and support to the participants diagnosed with ATTR.

Measure: Caregiver Burden Items Assessment: Work Time Lost

Time: Baseline (Day 1)

Description: Caregivers completed a series of questions related to the total cost spent on providing healthcare support to participants diagnosed with ATTR.

Measure: Caregiver Burden Items Assessment: Total Cost

Time: Baseline (Day 1)


HPO Nodes


Polyneuropathy
Genes 59
GCLC NAGS SLC12A6 ERCC6 AIFM1 C12ORF65 PSAP CYP7B1 COX3 PEX11B ATP6 ARL6IP1 COQ7 OPA1 PIK3R5 SH3TC2 LDB3 PEX12 ALAD ABHD12 FAM126A EDNRB NGLY1 ND2 ABCD1 CYTB PEX7 RPIA GSN TBC1D24 GRM1 SNAP29 TTR ND5 PDK3 ND4 GSN DGUOK PMM2 ND4L DHH ND1 TTR SEPTIN9 FUCA1 DARS2 PRPS1 SETX SLC25A19 PDYN ATP7B ERCC8 DHH DMXL2 MYOT MYD88 ARL6IP1 CD59 ND6
Amyloidosis
Genes 30
LIG4 TNFRSF1A APOA1 NLRP1 SLC7A7 CST3 MEFV GSN SAA1 OSMR PSEN2 TTR B2M RET ITM2B MEFV NLRP3 NLRP3 IL31RA LYZ ITM2B CCND1 APP PRNP POLA1 CST3 APP APOE FGA NLRP3
Cardiomyopathy
Genes 711
GTF2H5 UBR1 ND5 GMPPB CLPB RNASEH1 MYH7 COX15 TNNT2 TNNI3 MYPN AGPAT2 DMD DPM3 EYA4 CRYAB FHL2 POMT2 SGCD NDUFV2 DSG2 TREX1 TERT SLC40A1 IDUA TMEM43 RMRP DOLK NDUFAF4 FKRP SURF1 NUBPL COQ2 NDUFB10 EMD LMNA SLC25A4 SLC19A3 HMGCL MYH6 MYL3 MYH7 LAMA2 NBAS ERCC4 PMM2 HNRNPA1 GYS1 MTO1 ENPP1 SHOC2 SELENON SCN5A CENPE MYH6 NDUFAF5 COX6B1 TNNT2 CPT2 COL7A1 COX15 SLC2A10 SARDH CPT2 FANCF SDHA NDUFV2 SUFU GMPPB ND2 FTO CRYAB WFS1 POMT2 MYH7 RRM2B TRNL1 SURF1 COX8A SGCD NDUFA11 IL12B PLN H19-ICR CAV3 MLYCD TMEM43 GBE1 SDHD SELENON RBM20 FKRP GNPTAB BRAF DMD CLIP2 MYPN BMP2 HLA-B TRNF DPM3 FLNC LMNA PEX5 NPPA PARS2 NDUFS2 TAF1A OPA1 FHL1 COX14 ATPAF2 MYH7 PNPLA2 AARS2 SCN5A ELAC2 NDUFS2 DES PCCB DMD NDUFS1 MYH7 PET100 IFIH1 MYLK2 CLN3 ACTN2 TBL2 ALMS1 COX20 TGFB3 HAMP FAH CDKN1C MC2R EYA4 MEN1 FKTN FANCG IDUA HSD17B10 NDUFAF2 TTR MYH7 IGF2 FXN AIP TSFM SPTB PEX13 RAF1 NEXN PEX12 MIPEP JUP TPM2 MYBPC3 ND5 SLC25A3 MMP1 MYOT NAGA POLG ACADS SLC25A20 FXN SKI DES GPC3 COA5 SPTA1 SDHAF1 DSG2 GTF2I HADHA TXNRD2 ATP5F1D TWNK TMEM126A MIB1 LMNA COA8 HFE POMK TPM2 TRNH GNS MYPN NDUFB11 LAMB3 PEX6 ACTN2 MPLKIP PRDM16 NUP107 NDUFA10 CHKB FOS LMNA LDB3 ITPA FOXRED1 NNT PDGFRA NDUFAF3 DMD BCS1L HADHA RNU4ATAC TRNL1 PCCA GATA4 ND4 SDHA POLG CAV1 ND2 CPT1A FANCB RAD51 SHOC2 JUP BAG3 RMND1 MMUT NDUFA2 NDUFS1 GABRD DTNA FANCD2 DES VPS13A AGK MRPL3 TRNE PEX10 TACO1 LMNA MRPS22 XRCC4 ND1 NDUFS4 ACAD9 ATAD3A DSC2 TNNC1 BRCA1 TAZ MAP2K1 POLG FASTKD2 ACADVL NDUFA6 NDUFAF5 MAP2K2 TRNS1 NDUFB8 TK2 FKRP KRAS TPM1 BRAF PRDM16 TMPO ACTC1 USP8 XRCC2 DCAF8 FIG4 MYH6 SDHAF1 RAF1 HNRNPA2B1 ANKS6 GPC4 CPT2 POLG TOP3A KAT6B COX1 SGSH ARSB TNNI3 AGL NEBL NDUFS6 STAR MRAP CSRP3 NDUFA12 KCNQ1OT1 LDB3 DSP NDUFA13 ACTC1 D2HGDH JUP NDUFB9 TCAP FANCL TRNW COX3 PLN TTPA DSP RNU4ATAC LIAS GYG1 GPR101 MYL2 GTF2E2 MAP2K1 LIMS2 TIMMDC1 TGFB1 RNASEH2A LMNA DSP ALG1 SDHA TWNK COX2 SCO1 MTFMT TTR FOXRED1 EPB42 RRM2B GSN PHYH DES GTPBP3 COX10 GPC3 TMEM126B ABHD5 HADHA MAP3K20 POLG PTPN11 COG7 VCL NDUFB11 GLA TPM2 NDUFAF1 SLC30A10 MAP2K2 WARS2 SYNE2 KRAS MGME1 FOXRED1 KLF1 ATAD3A HRAS ATP6 NDUFAF2 HACD1 ALG1 GMPPB ABCC6 PPARG XYLT1 PPCS SLC25A4 RAD51C GATA5 DNAJC19 ANK1 DLD COL7A1 PHYH LDB3 NDUFA1 EPG5 IDH2 PSEN1 HJV NDUFB3 BAZ1B NDUFA4 PEX7 ERCC2 TNNI3 TRNW COA8 ECHS1 SYNE2 ND6 BSCL2 ACAD9 TFR2 TARS1 NRAS TRNV TMEM70 ND4 NEXN RFWD3 MYOZ2 FHL1 NDUFS8 LMNA NEU1 RFC2 DSP RERE NDUFAF3 NDUFS3 TRNT BAG3 HADHB CSRP3 TACO1 SLC19A2 GSN LAMA4 NDUFS4 XK TWNK ACAD8 TRNQ FLNC FKTN GJA5 SLC25A20 RBCK1 TRNN GTF2IRD1 FANCI NDUFS7 SOS1 C1QBP PTPN11 XYLT2 ANKRD1 EPG5 BSCL2 TNNI3 RNF113A MAD2L2 MRPS14 SGCB PMM2 PEX7 TRNK TNNI3 NAXD GATAD1 ACTC1 TWNK NAGA LAMP2 TPI1 TRNK TAZ FANCA PCCB ANKRD11 NDUFAF4 SLX4 AGK MYBPC3 IDUA TPM1 ATP5F1E TAPT1 ATP6 RBM20 LMNA COQ4 KRAS HAMP FBXL4 AIP ADCY5 LDB3 TTN NDUFS2 ELN KCNQ1 ABCC9 SMC1A TPM3 BOLA3 TTN CAVIN1 PPCS PALB2 VCL HADHA FHL1 MICOS13 NAGLU ACTA1 SLC25A4 FANCE SDHD FANCM HCCS NEXN TNNT2 RAF1 HJV MYH6 BRAF WFS1 TCAP TTN PNPLA2 SLC22A5 KLHL41 ACTA1 PDHA1 HCCS CAP2 PEX26 TPM3 PSEN2 NDUFV1 ND6 ACTA1 PPARG HGSNAT PKP2 CSRP3 PTPN11 ACADL TTN BBS2 HADH PSEN2 MYOT KBTBD13 ADCY5 NDUFB11 PEX3 NEB DMD TAZ NDUFA11 FIG4 AHCY ACADVL DLD NDUFA2 RYR1 PRKAG2 DSG2 TNNI3K ERBB3 ND3 TNNT2 POLG2 NUP107 NDUFS7 FKTN ABCC9 RAF1 TNNC1 PIGT ANO5 DOLK PRDM16 NF1 PRKAG2 RAF1 NDUFAF6 TMEM70 LMNA PEX2 LTBP4 KCNH1 PRKAG2 BAG3 BRAF CRYAB TPM1 SLC25A4 PPP1CB TRNS2 SGCB SYNE1 SPEG VPS33A TPM3 NDUFA10 FHL1 TNNC1 NDUFV2 CISD2 SGCA ALMS1 HPS1 MYH7 KCNJ8 ERCC3 LIMK1 NDUFV1 PEX11B GATAD1 MYPN SLC4A1 NDUFAF1 RNASEH2B TRNS1 POMT1 GNE TRIP4 MAP2K1 NEK8 BRCA2 ATP6V1A TRNL1 NDUFS3 JPH2 RIT1 PGM1 COX7B AIP PPA2 RYR2 AHCY ND1 LIPT1 ACTA1 NDUFS8 CRYAB GPC4 RAB3GAP2 MRPL44 POMT1 LAMA3 HFE TXNRD2 TMEM126B ACAD8 DNAJC19 H19 SDHA ND1 NEB LAMC2 VAC14 SCO2 LAMP2 ADAR POMT1 NDUFA9 JUP LAMA4 SCO2 MGME1 PEX14 HADH RNASEH2C LMNA TANGO2 CDH23 SDHA PEX1 TRNK FLAD1 PEX16 FKTN PEX7 POMGNT1 SDHB PSEN1 COX7B ND3 HRAS COA6 GLB1 MYL2 AGPAT2 HBB MMUT USP9X ABCC6 PEX19 PET100 FANCC HADHB MYO18B LMNA BRIP1 NDUFB11 YARS2 KCNAB2 PCCA VCL POMT1 MYBPC3 NDUFS2 TRNT1 GUSB SLC25A3 VCP PLN ITGA7 CPT2 UBE2T NDUFS4 DSP ABCC9 SAMHD1 NDUFS8 MLX