Covid 19 Research using Clinical Trials (Home Page)
EHR-based Clinician JumpstartWiki
Developed by Shray Alag
Clinical Trial MeSH HPO Drug Gene SNP Protein Mutation
Correlated MeSH Terms (14)
| Name (Synonyms) | Correlation | |
|---|---|---|
| D014652 | Vascular Diseases NIH | 0.71 |
| D016491 | Peripheral Vascular Diseases NIH | 0.71 |
| D058729 | Peripheral Arterial Disease NIH | 0.58 |
| D009362 | Neoplasm Metastasis NIH | 0.58 |
| D051437 | Renal Insufficiency, NIH | 0.50 |
| D008175 | Lung Neoplasms NIH | 0.50 |
| D008103 | Liver Cirrhosis, NIH | 0.50 |
| D007676 | Kidney Failure, Chronic NIH | 0.41 |
| D006333 | Heart Failure NIH | 0.38 |
| D029424 | Pulmonary Disease, Chronic Obstructive NIH | 0.35 |
| D017563 | Lung Diseases, Interstitial NIH | 0.32 |
| D002908 | Chronic Disease NIH | 0.32 |
| D008171 | Lung Diseases, NIH | 0.26 |
| D009369 | Neoplasms, NIH | 0.22 |
Correlated HPO Terms (9)
| Name (Synonyms) | Correlation | |
|---|---|---|
| HP:0000083 | Renal insufficiency HPO | 0.50 |
| HP:0001395 | Hepatic fibrosis HPO | 0.50 |
| HP:0100526 | Neoplasm of the lung HPO | 0.50 |
| HP:0004950 | Peripheral arterial stenosis HPO | 0.45 |
| HP:0001635 | Congestive heart failure HPO | 0.38 |
| HP:0006510 | Chronic pulmonary obstruction HPO | 0.35 |
| HP:0006515 | Interstitial pneumonitis HPO | 0.32 |
| HP:0002088 | Abnormal lung morphology HPO | 0.26 |
| HP:0002664 | Neoplasm HPO | 0.22 |
There is one clinical trial.
Clinical Trials
1 Using the Electronic Health Record to Identify and Promote Goals-of-Care Communication for Older Patients With Serious Illness
The objective of this protocol is to test the effectiveness of a Jumpstart intervention on patient-centered outcomes for patients with chronic illness by ensuring that they receive care that is concordant with their goals over time, and across settings and providers. This study will examine the effect of the EHR-based intervention to improve quality of palliative care for patients over the age of 65 with chronic, life-limiting illness with a particular emphasis on Alzheimer's disease and related dementias (ADRD). The specific aims are: 1) to evaluate the effectiveness of a novel EHR-based (electronic health record) clinician Jumpstart guide, compared with usual care, for improving the quality of care; the primary outcome is documentation of a goals-of-care discussion during the hospitalization. Secondary outcomes focus on intensity of care: ICU use, ICU and hospital length of stay, costs of care during the hospitalization, and 30-day hospital readmissions; and 2) to conduct a mixed-methods evaluation of the implementation of the Jumpstart intervention, guided by the RE-AIM and CFIR frameworks for implementation science, incorporating quantitative assessments of effectiveness, implementation and maintenance and qualitative assessments of clinician perspectives on barriers and facilitators to future implementation and dissemination.
NCT04281784 Dementia Chronic Disease Neoplasm Metastasis Lung Neoplasm Pulmonary Disease, Chronic Obstructive Heart Failure，Congestive Liver Cirrhosis Kidney Failure, Chronic Lung Diseases, Interstitial Peripheral Vascular Disease Diabetes With End Organ Injury Palliative Care, Patient Care Health Care Quality, Access, and Evaluation Patient Care Inpatients Health Communication Patient Care Planning Behavioral: EHR-based Clinician Jumpstart MeSH:Neoplasm Metastasis Lung Neoplasms Liver Cirrhosis Lung Diseases Pulmonary Disease, Chronic Obstructive Lung Diseases, Interstitial Renal Insufficiency Kidney Failure, Chronic Heart Failure Vascular Diseases Peripheral Vascular Diseases Peripheral Arterial Disease Chronic Disease Neoplasms
HPO:Abnormal lung morphology Chronic pulmonary obstruction Cirrhosis Congestive heart failure Hepatic fibrosis Interstitial pneumonitis Interstitial pulmonary abnormality Left ventricular dysfunction Neoplasm Neoplasm of the lung Peripheral arterial stenosis Renal insufficiency Right ventricular failure
Primary Outcomes
Description: The primary outcome is the proportion of patients who have a goals-of-care (GOC) discussion that has been documented in the EHR in the period between randomization and 30 days following randomization The proportion is the number of patients with GOC documentation over the number of patients in each study arm. Documentation of goals-of-care discussions will be evaluated using our NLP/ML methods. Study staff will manually review and compare findings using a randomly-selected sample of charts using our standard EHR abstraction methods; manual chart abstraction will be the gold standard.
Measure: EHR documentation of Goals of Care discussions Time: Assessed for the period between randomization and 30 days following randomization
Secondary Outcomes
Description: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of ICU admissions during the patient's (index) hospital stay will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care/ICU use: ICU admissions Time: Assessed for the period between randomization and 30 days following randomization
Description: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of days the patient spent in the ICU during their (index) hospital stay will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care/ICU use: ICU length of stay Time: Assessed for the period between randomization and 30 days following randomization
Description: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of days the patient spent in the hospital during that (index) hospital stay will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care/Hospital use: Hospital length of stay Time: Assessed for the period between randomization and 30 days following randomization
Description: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of hospital readmissions between randomization and 30 days following randomization will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care: Hospital Readmissions 30 days Time: Assessed for the period between randomization and 30 days following randomization
Description: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of ICU readmissions between randomization and 30 days following randomization will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care: ICU Readmissions 30 days Time: Assessed for the period between randomization and 30 days following randomization
Description: Costs for intervention vs. control will be reported in US dollars and identified from UW Medicine administrative financial databases. Costs will be reported for total hospital costs and disaggregated costs (direct-variable, direct fixed, indirect costs). Direct-variable costs will include supply and drug costs. Direct-fixed costs will include labor, clinical department administration, and overhead fees. Indirect costs represent services provided by cost centers not directly linked to patient care such as information technology and environmental services. Costs for ED (emergency department) days and ICU days will be similarly assessed.
Measure: Intensity of care: Healthcare costs Time: 1 and 3 months after randomization
Description: From Washington State death certificates.
Measure: All-cause mortality at 1 year (safety outcome) Time: 1 year after randomization
Other Outcomes
Description: Qualitative interviews after individual participation. Interviews will be guided by the RE-AIM and Consolidated Framework for Implementation Research (CFIR) to explore the factors associated with implementation (e.g., reach, maintenance, feasibility, inner and outer settings, individuals, and processes of care.) Individual constructs within these domains were chosen to fit this specific intervention and context.
Measure: Key Implementation Factors Time: 3 months after randomization
Related HPO nodes (Using clinical trials)
HP:0002088: Abnormal lung morphology
Genes 1242
CCDC39 KMT2D FGFR3 GLI3 PRSS1 RAG1 DSG1 ELP1 TSC2 IL17F NEK9 BLNK BACH2 ARHGAP31 SGSH ARID1B PTEN STK11 STAT3 SPINK1 CD19 DNAH1 AICDA RRAS2 MEFV CASP10 CTLA4 PDGFRA GATA6 SFTPC FOXN1 GPR35 MED25 DYNC2LI1 RAG2 CBL STAT3 TTC37 ATM LTBP3 STN1 RSPH3 GLA WDR35 REN LAT KRAS CCR1 TYK2 BGN NR5A1 CCR6 TTC7A GPC3 LGI4 IL6 GAS8 DGCR8 COLQ TCF4 COL11A2 RUNX1 BCOR ORC6 DCLRE1C SERPINA1 SLC7A7 HRAS TBX1 GBA RNF113A ICOS SETBP1 CFI IRF2BP2 MYBPC3 CEP57 CHST14 CHRND CEP120 ESS2 BMP15 HPS4 BCOR IFT43 GBA BCL2 MRAS DICER1 MECP2 WRN GLB1 CSF2RB SELENON CHRNG BCOR INPPL1 CD3G ACADVL PAX3 SFTPC NSMCE3 AGA CCDC65 POU6F2 HGSNAT C4A SFTPB NFIX BUB3 MARS1 GREB1L SLC26A2 EXOSC9 FCGR2A DYNC2I1 ABCA12 TRIP11 DGCR6 MST1 DSE NCF4 FGFR1 ARSB LYST RAG1 TPP2 RAG2 PHGDH EDNRB SCNN1A EVC2 ITCH DICER1 WDR19 WNT4 SFTPA2 WT1 IGHM DNAAF4 CRTAP OCRL TP53 CFB TNNI3 TINF2 DCLRE1C MAGEL2 ATP11A LTBP4 TAF1 SCNN1B GTF2IRD1 IFT80 UFD1 MUC5B NUP107 BRAF FAS SNORD115-1 IL2RG MYH3 GPKOW RFXANK ICOS CEP57 LPIN2 TAP1 CD3D IRF5 FOXJ1 AGRN KITLG PIK3R1 CHRNG WIPF1 GPC4 CTLA4 CYP2A6 RPGR CORO1A ZMPSTE24 EP300 JAGN1 LFNG TGFB1 CD3E DNAL1 EXTL3 NCF1 SNRPN CLIP2 COMT SFTPC STAT4 HLA-DRB1 WAS DOK7 RMRP RSPH9 HLA-DRB1 IL23R DIS3L2 ERCC3 RAB27A POLR3H ERAP1 FOXP1 ITGA3 CFH PCGF2 ATP6V0A2 DNMT3B NOTCH1 BICC1 HIRA DKC1 LEP BCR TGFBR2 AKT1 ATP5F1A RNF125 FBN1 TGM1 CCDC40 NEK10 TGFBR1 RAC1 CREBBP TMEM94 ELN DNAI2 PLG UGP2 COL6A1 SLC25A1 DYNC2I2 IGLL1 IRAK1 CHRM3 SOS1 MYH7 COG6 CD8A STX1A GSN DNAJB13 PRKN EDARADD TERT NSD2 HLA-B CYTB WNT3 LEPR MKS1 IL2RB ZMPSTE24 PARN GRIP1 TRPV3 MEFV GATA4 CHAMP1 C11ORF95 DNAJB13 FOXP3 RAF1 DYNC2H1 BTK RFXANK MYH3 SMARCE1 DGCR2 ALPL SLC18A3 NR2F2 NEK1 STRA6 NKX2-1 TERC CAV1 NAA10 TGFBR2 PWRN1 RYR1 AGA CR2 TERC PIGN CCNO PKD1L1 RPL10 COL5A2 BLM H19 ABL1 CFTR RIT1 NCF1 CR2 IL2RA PSMC3IP ARID2 SLC7A7 SLC35C1 TIMM8A CDC45 NFKB2 CCDC114 TPM3 SCNN1B ADA LRRC56 HLA-DRB1 PEPD KATNIP LYST GRHL3 TAPT1 NBN GDF1 PRKCD CTC1 RCBTB1 PMM2 RET COL2A1 SMAD3 POLR3A LIPN BMPR2 SCNN1B SDR9C7 ASAH1 DNAAF6 CRELD1 OSTM1 RNU4ATAC COL13A1 DHCR7 GPC6 MGP MCIDAS IL17RC PSAP NAB2 KEAP1 TSC1 CITED2 SLC1A4 NGLY1 PPP1CB MANBA FGF20 A2ML1 MITF MAP3K8 ALB SMARCD1 HES7 POLA1 ERBB2 ALMS1 GUSB SMN1 SLCO2A1 CD79B CFAP221 VHL FGFR3 CYP4F22 IGLL1 STK36 TP53 HSPG2 PLOD1 DSP GMNN NHP2 COL11A2 OFD1 TNFRSF11A ARHGAP31 MALT1 CSF2RA COG4 RREB1 SCNN1A CD40LG NME8 SELENON NPHP3 LMNA CFTR CFAP298 SMPD1 FAT4 BTNL2 ALG12 IL21 BCL10 PRKDC TNFRSF13C HLA-DRB1 FOXE1 NXN BLM ERCC6 RSPH9 TBX5 LIG4 TBCE GALNS ACTA2 SLC12A6 SOX10 ZBTB16 FBLN5 SMAD4 NAGLU HELLS CTSC PRKG1 RASGRP1 CRELD1 ADGRG6 DYNC2I1 TINF2 SMARCB1 SP110 RSPH1 CCDC39 ARMC4 SMPD1 LAMTOR2 ABCA3 NHLRC2 FAS IKBKB MBTPS2 PTPRC NFKB2 MMP21 TCIRG1 MS4A1 MTHFD1 RYR1 ADA DNAI1 DVL3 PLCG2 PTPN22 BCL11B BAZ1B RTEL1 CALCRL CCBE1 SFTPB PTH1R DNAH11 CTLA4 DCLRE1C ASXL1 SAMD9L WT1 PIK3CA TREX1 GBA CFTR TRIM28 GP1BB TGFB1 CLPB ICOS FLNA GFI1 ARID1B IRAK4 DNAAF2 SFTPA2 JAG1 EGFR IGH KIAA0586 RIT1 PCNT DNAH5 NFKB1 GBA STAT1 TET2 RAG2 HLA-DRB1 CCDC151 MFAP5 EPG5 SLC25A22 DYNC2I2 HYLS1 XIAP MUSK SLC35A1 GNPTAB MS4A1 LOX LEPR CRKL RAG1 ZMYND10 COL6A2 PIGL ATM MIF IFT81 STAT4 LMOD3 GAS2L2 CDCA7 MEFV PRPS1 TGFB3 ERF KLHL40 SLC34A2 EPHB4 RFX5 KAT6B HYDIN RELB RLIM ADAMTS3 MEFV PUF60 KRAS SCN9A BTNL2 FOXC2 SH2D1A LEP PGM3 NOS1 ERCC2 TBX1 TBC1D24 CHD7 DLL3 POLE ALG9 LRRC6 TNFRSF13B CD28 CFTR CTRC OFD1 RANBP2 CHRNA1 IL7R MYL2 LZTR1 TRAIP CCDC22 IGH CCDC40 IL2RG SNORD116-1 MYOD1 ALOX12B NFKB1 KIF11 TINF2 GLI3 TRPS1 SGCG CCN2 PARN EOGT CHAT TSC1 SERPINH1 CDT1 CTCF UBB FOXF1 PRKAR1A PIK3CD BAP1 FBN1 DHCR24 TTC25 CARD11 SERPINF2 HELLPAR CXCR4 DYNC2I2 MASP2 IL6ST TBC1D24 GATA6 TBCD SMN1 RSPH3 COG4 MARS1 CSPP1 ITGA8 KIF20A PERP MUSK HLA-DRB1 HYDIN TGFBR1 CASP8 SCNN1G CD46 TNFSF12 RRAS RHOH SPINK5 MAT2A CCR6 ABCA3 LACC1 PRKCD FCGR2A CCN2 FAT4 KDM6A IDUA DNAH11 RSPH1 DOCK8 DYNC2LI1 NKX2-1 CCNO SPAG1 LIMK1 MPLKIP MINPP1 BIRC3 FBN1 FGF20 TERT IKBKB CD79A AFF4 FSHR STAT5B TNFRSF13C MYO5A NOTCH3 ELN LAMTOR2 IL12A-AS1 NADK2 RELA DPM2 PWAR1 MESP2 ELANE CD81 PNP PRSS2 ZAP70 WRAP53 DNAAF1 CHRNG MYRF TSC1 CLCA4 HABP2 DNAH9 FAM13A BTK TERT LRBA RSPH4A NSDHL SOX11 RYR1 TNNT2 KLRC4 SMARCD2 PIEZO2 SLC5A7 EVC KIF1A ACVRL1 ROR2 NCF4 IFT172 TNFRSF13B HLA-B CCDC65 FADD NOD2 CTLA4 FADD CACNA1C ITGA8 CYBC1 MGP VPS33A MYD88 COL13A1 DOCK6 MYSM1 DNAAF4 FLI1 FLNB MAN2B1 FRAS1 HLA-DQA1 SCNN1A IL21R IRF5 FASLG FANCB FAM20C COL6A3 KIAA0319L MCTP2 AP3D1 AGGF1 PIGN EMG1 ARVCF NUMA1 DLL4 RAG2 KIAA0586 NFKB2 TFRC NDN MAPK1 LAMA2 AGTR1 DONSON FANCB TGFB1 INPPL1 TNFSF11 XIAP RBPJ SLC18A3 UNG FLCN MKKS TRIM28 DNAAF6 SCN10A B3GLCT IL2RG CCDC103 CLCN7 PTPN22 GNPTAB SPP1 CXCR4 PLEC HLA-DPB1 RFXAP SCN11A NPM1 APOE LMNA PEX1 CARD11 USB1 CSPP1 ELN SOS2 CCDC103 MYH11 HLA-DQB1 TBC1D23 TTC21B DLL3 EFEMP2 MYO9A PORCN FLCN SCNN1G RBM10 CD79A IL12A RIPK4 RFC2 SLC22A18 FCGR2B RSPH4A IL2RG ACTA1 REST SRP54 RAF1 SNAP25 TSC1 CAV1 IRF8 CCNQ NCF2 GAS8 SMAD3 ZNHIT3 DHCR24 FOXP1 ZBTB24 TNFRSF13B PTPN11 NABP1 TERC B2M ELN SCNN1G LRRC56 FUCA1 SKIV2L JMJD1C PEX13 VANGL1 GATA4 CFI PDGFRB STAT6 TNFRSF13C FLNA TRIP13 ZBTB24 CEP55 NELFA NECTIN1 EPM2A TBL1XR1 CCND1 JAK3 NAA10 MYPN ZFPM2 DDR2 LMNA NME8 ECM1 ITCH CD3E NFKBIA DICER1 BUB1B SERPINF2 PRTN3 DNAI1 ZEB2 CYBB IDUA EPG5 TCIRG1 HOXD13 SNAI2 SLC35A1 CR2 SOX4 GAA TARS1 ELP1 ALMS1 ETFDH BMP2 ELN PLVAP SULT2B1 RAG2 TERT SLC25A24 SMPD1 TSC2 WDR19 GLE1 GATA6 RNU4ATAC PLP1 ARID1A ATP6V1E1 CFAP410 TCTN3 BRAF FCN3 STRA6 IL17RA PIEZO1 BNC1 PARN SCNN1G TBX1 CCBE1 EFEMP2 SLC52A3 BUB1 DCLRE1C CIITA MYLK LRRC6 CFAP298 ASCC1 DNAAF5 WNT4 LCK UMPS RNF168 USP9X CD3D INTU RUNX2 NGLY1 SPECC1L SEC24C GLDN FAS FLT4 IPW CCDC151 MRPS22 SYT2 SPAG1 LAMB2 GDF1 TERT DNAAF3 FLNC DNAAF1 SON PRKAG2 DPP9 STAT1 TECPR2 GPC3 RAG1 TNFRSF1B NUP88 AARS2 CEP120 RSPO2 RIPPLY2 LIFR MYSM1 GBA CYBA CBL TERT NPHP3 TRIP4 PHGDH VAMP1 NOTCH2 FASLG SMARCC2 G6PC3 KAT6B PIK3R1 CD81 CHST14 NOP10 IFT80 SHROOM4 SCNN1A CD19 SLC26A2 TGFB2 WDR35 SLC11A1 TTC25 RIPK1 UNC119 IGHM SAMD9 GTF2H5 GLI3 PML SLC29A3 RPGR SCNN1B ACE NKX2-5 DNAAF5 SCARB2 HFE FBLN5 RAG1 NEB DYNC2I1 GNS NFE2L2 RTEL1 CD19 DCTN4 FRAS1 ADNP IFT140 TGFB2 NPAP1 TRIP13 MESP2 CFTR ADAMTS2 DOCK8 RAG1 BRCA2 P4HTM MAN2B1 SLC26A2 CFAP300 RAB3GAP2 PAX6 JAK3 GTF2E2 NRAS SH3KBP1 RSPO2 ZNF341 BCL6 RFXAP SPEF2 MSN MCM4 CCND1 FARSB FUZ NIPBL BMPR2 STAT3 ACTA1 ZMYND10 IL7R SLC2A10 COQ7 NIPAL4 MLXIPL COL3A1 FREM2 ALDH18A1 LETM1 NKX2-5 TNFRSF1A MBTPS2 IKZF1 PIGN UBAC2 DNAI2 FBLN5 ACP5 ZAP70 RARA TPM2 NEK10 SFTPA1 ARMC4 NRAS AGT RPS15A CARMIL2 UBE2A EGFR SLC2A10 NAA10 CASP8 DNMT3B TAPBP RTEL1 EWSR1 PTEN ABCA12 SNX10 CSF2RA MESP2 SMARCA4 CBL AK2 KCNJ6 FIP1L1 HACD1 ETFA PNP ITGA7 ALOXE3 HLA-DPA1 HERC2 NEK8 SLC46A1 SMO LRRC8A IER3IP1 RARB TSC2 TLR4 TRAF3IP2 HPS6 ADA TRIP4 FAM111B FMO3 DPF2 RAPSN LBR MKRN3-AS1 VPS33A NOTCH2 DYNC2H1 IRF1 WNT3 DRC1 COPA PKHD1 ETFB CRLF1 ENG ELANE PANK2 GAS2L2 GTF2I CD247 PRKAR1A KLHL41 BMPER WAS PIGT RASA2 DNASE1L3 DHCR7 THOC2 TK2 IL10 IFNGR1 RASGRP1 CIITA NPM1 SLC26A2 RNF168 INHBA SPIDR EHMT1 CDC42 RB1 NHLRC1 TBX6 STAT3 MUC5B VPS13A NOTCH3 TMEM260 ASAH1 DNAH5 RPL10 FCGR3A WT1 FLCN INVS GLI1 COL5A1 TTC12 ITPR1 PTPN22 FLCN RARB CYBA GRIP1 IL17RA MKRN3 AFF4 SDCCAG8 IFIH1 CD79B GATA2 KAT6B TERC EIF2AK4 TAP2 HPS1 WASHC5 TRPV4 SERPINA1 SRSF2 PTPN11 CSF2RB STING1 NCF2 FSHR COL1A1 TBL2 ACTA1 CACNA1B PEPD SOX18 DNAAF3 DNAAF2 DNASE1 PPP2R1B WT1 DRC1 TCF3 CC2D2A CYBB PIK3R1 IL1RN NOP10 CCNQ TNFSF12 USP9X NHP2 LMNA NBN PYROXD1 IL7R CCDC114 HPGD BTK ELN PSAT1 BLNK CD55 GLE1 IDUA GATA6 USB1 SIK1 FLNA FLNB CLEC7A SMAD4 MAP3K20 KPTN RFX5 FOXE3 DKC1 COL2A1 POLA1 TRIP11 PGM3 GUSB AP3B1 COL3A1 SOX18 KRAS HP:0001394: Cirrhosis
Genes 172
GALT NHP2 SFTPA2 JAG1 CBL SPIB BCS1L TERT LBR GPC1 TREX1 BSCL2 MET JAK2 AMACR ENG FAH ARHGAP31 INPP5E NOP10 TERT HBB MPI NGLY1 POLG KRT8 GDF2 TET2 ATP7B IGF2R HFE DGUOK PPARG ATP7B CC2D2A POLG PIK3CA SFTPC COG6 SLC30A10 GBE1 NPM1 GPR35 WRAP53 TYMP TTC37 SKIV2L DCDC2 POU2AF1 TRMT5 SKIV2L SCARB2 HFE SMAD4 MUC5B TERT TFAM ACVRL1 NOTCH1 RRM2B DKC1 COG4 CD40LG SLC25A13 ABCB11 PHKG2 ACVRL1 NPHP3 CTNNB1 AXIN1 AKR1D1 CC2D2A TCF4 RUNX1 MPV17 SERPINA1 ITCH HBB KRT18 TERC IL12A CCDC115 RPGRIP1L SRSF2 TTC37 TERT FARSB BSCL2 FECH HSD3B7 ALMS1 IFT43 BMP2 DOCK6 TP53 HJV PHKG2 PEX1 TMEM67 PARN EOGT IL21R ALDOB TINF2 IL12RB1 SLC30A10 SLC40A1 TALDO1 TREX1 SMPD1 SLC40A1 CAV1 KRT18 AP1S1 RPGRIP1L MARS1 APOE DLL4 PIGA TERC MMEL1 AGPAT2 JAK2 MST1 TERC COG4 LIPA ABCB4 PHKA2 PYGL AP1B1 IRF5 TFR2 TMEM67 UROD RBPJ NHP2 F5 SLC7A7 RTEL1 CYP7B1 ATP6AP1 KRT8 BSCL2 FOS ABHD5 NR1H4 HFE F5 ASXL1 TNPO3 ENG CASP8 HAMP PPARG USB1 ASS1 AGPAT2 PDGFRL GLRX5 GBA TINF2 CTC1 TNFSF15 APC ATP8B1 HSD3B7 TALDO1 DKC1 PPARG CAVIN1 LIPA Protein Mutations 0
SNP 0
HP:0001635: Congestive heart failure
Genes 246
TRIP4 ADCY5 PRDM16 LIMK1 HNRNPA1 VHL SDHB SDHAF2 NDUFB8 VHL DTNA AFF4 COX1 SLC22A5 COL1A1 ELAC2 FGFR3 MAPRE2 ABCC6 NF1 COG7 ELN EYA4 ALMS1 PRKAR1A SURF1 HADHA PTEN TMEM127 NDUFAF1 GPR35 TRNC CLIC2 PHYH PLOD1 GNA11 TRPM4 CP HFE FBLN5 GLA ACVRL1 TRNK TRNL1 CCR6 SDHD TMEM43 GDNF TTN ATP5F1A PSEN2 TRNE SDHC FH LMNA NDUFB11 TTN TCF4 COX3 FLNA TRNK XYLT2 RAB3GAP2 EYA4 DES TRIM37 SCO2 NDUFS2 TNNT2 HLA-DRB1 MECP2 FGD1 BSCL2 MYD88 TF CYTB MYSM1 PSEN1 TNNI3 TRNV WRN TAZ TMEM70 STRADA SDHA DES LMNA AGGF1 MYH7 TPI1 PSMB8 DMD MYH7 RET MST1 IKBKG PNPLA2 GLA EPAS1 SLC2A10 GTPBP3 MYL3 BAZ1B NSMCE2 SLC25A11 SCN5A LMNA FOS TRNQ HFE RBM20 GNPTAB PPARG TRNK AGPAT2 PPA2 ACAD9 ADAMTSL2 SDHD PRKAR1A TPM1 GTF2IRD1 PPARG CAVIN1 ENPP1 HNRNPA2B1 EFEMP2 VPS33A LDB3 MYH7 SDHD MYLK2 RET RFC2 IRF5 KCNJ5 ENG DLST SLC17A5 COX2 TRNF CAV1 HBB GTF2I STAT1 GDF2 TRNW GATAD1 EPG5 HADHB CLIP2 SCN4A XYLT1 FLNC GLB1 SNAP29 SMAD4 COL1A2 TRNS2 GTPBP3 CACNA1S LMNA DNAJC19 TNNI3K LMNA SDHB JUP HBA2 IDS LMNA IFIH1 TMEM127 SDHB MYH6 LMNA SCN1B MYH7 CASR MDH2 CAV3 DNMT3A CYTB ALMS1 ND5 BMP2 TRNL1 HJV ATXN7 PLN NKX2-5 SLC25A3 ATP6V1A TBL2 SELENON RYR1 PRKAR1A FBN1 HBA1 VCL CEP19 CAV1 VCP SF3B1 DSP MAX MYPN PEX7 ABCC6 KIF1B FGF23 GBA TET2 HADHA TRNS1 RET GJA1 NDUFAF3 MYH7 ACAD9 ADCY5 DSP FXN TUBB LMNA SGCD SLC25A26 CDH23 MAX JUP ENG BAG3 HAMP ACTC1 HADHB DSP ND6 KIF1B BCHE SLC19A2 RPS19 PRKAG2 CCN2 VHL CLIC2 RASA1 ND1 SNP 0
HP:0001395: Hepatic fibrosis
Genes 142
NPHP4 PLIN1 SPIB SDCCAG8 PKHD1 GPC1 TMEM67 IFT172 ARHGAP31 INPP5E SLC25A13 IFT27 MPI IFT80 NPHP3 PKHD1 INPP5E BBS10 SDCCAG8 ANKS6 ARL6 OFD1 DGUOK WDR35 CC2D2A BBS9 CCDC28B HJV CEP55 B9D2 DCDC2 BBS2 WDPCP GPR35 TTC37 HAMP BBS7 INSR SKIV2L GLIS3 BBS5 NPHP3 POU2AF1 ABCB4 WDR35 CC2D2A NHP2 SCYL1 LZTFL1 SCYL1 CEP164 NOTCH1 IFT140 TRIM32 DOLK NPHP3 CC2D2A TCF4 FADD TMEM216 DYNC2I2 BBS1 ALG9 IL12A CEP290 CSPP1 RPGRIP1L TCTN2 TTC37 RPGRIP1 MKS1 DOCK6 PHKG2 PEX1 BBS1 PNPLA6 TMEM67 PTRH2 AGL DZIP1L DLL4 IQCB1 MKKS TMEM67 EOGT DYNC2I1 IL12RB1 ASL GPD1 BBS4 SLC40A1 C8ORF37 TALDO1 NPHP1 DYNC2H1 SLC40A1 AP1S1 CEP290 TMEM67 RPGRIP1L NEK1 DLL4 INVS MMEL1 CC2D2A MST1 B9D1 ARL6 NOP10 TRAF3IP1 PHKA2 PYGL IRF5 TMEM67 RBPJ BBIP1 MKS1 ABCD3 MPI TMEM67 TMEM231 RPGRIP1L TNPO3 TRAF3IP1 WDPCP IFT172 TMEM107 WDR19 NEK8 MET TNFSF15 IFT122 NPHP1 CTNNB1 PMM2 CYP7B1 PMM2 BBS12 CEP290 LIPA ASAH1 TTC8 SNP 0
Protein Mutations 1
S1009A SNP 0
HP:0006530: Interstitial pulmonary abnormality
Genes 110
SFTPA2 NKX2-1 TERT COPA IRF5 TERT FSHR CAV1 STAT3 CASP10 CTLA4 THOC2 UNC119 TERC SFTPC RASGRP1 RAG1 SFTPC HLA-DRB1 RNF168 HLA-DRB1 SPIDR CLCA4 POLR3H FAM13A STN1 DSP ERF SCARB2 ITGA3 NHP2 MUC5B TERT NR5A1 CCR6 RTEL1 DKC1 DCTN4 BTNL2 PTPN22 CFTR BTNL2 PRTN3 GBA HPS1 STX1A HLA-DRB1 BMP15 FARSB HPS4 ALMS1 GBA BMPR2 STING1 TINF2 PARN TERT CCN2 FOXP3 IRF5 TINF2 CSF2RB FASLG SP110 SFTPC NSMCE3 SMPD1 ABCA3 KIAA0319L SFTPB AP3D1 FAS MARS1 BNC1 PARN TERC CAV1 SFTPA1 IL1RN TERC NOP10 MARS1 PLCG2 RNF168 PSMC3IP RTEL1 HLA-DRB1 CSF2RA SFTPB SFTPA2 FAS CCR6 PLEC ABCA3 HLA-DPB1 MRPS22 HLA-DPA1 GBA RCBTB1 PRKCD TERT ATP11A TGFB1 DPP9 CCN2 MUC5B NUP107 FAM111B AP3B1 ASAH1 Protein Mutations 0
SNP 0
HP:0005162: Left ventricular dysfunction
Genes 74
TWNK PRDM16 ACTA2 DYSF SDHAF1 ND5 LDLR CYTB FKRP CASQ2 SMAD4 TRNV COX2 PRKG1 COX1 TRNF SDHA SMAD3 TRNW TRDN MFAP5 ABCG8 TOP3A RYR2 LOX TGFBR2 ELN RRM2B LDLRAP1 MYLK LAMA2 MYH7 POLG TRNS1 TRNC GTPBP3 KIF20A TGFB3 POLG2 SGCG PCSK9 APOB TRNS2 POMT2 TRNQ TRNK TRNL1 DMPK TNNT2 POMT2 MAT2A TTN LDB3 LMNA PPCS FBN1 TGFBR1 TNNI3 MYPN TGFB2 ND6 ABCG5 COX3 SLC25A4 FLNC SDHB FOXE3 POMT1 MYH11 MYH11 SDHD EYA4 MYH11 ND1 Protein Mutations 0
SNP 0
HP:0002664: Neoplasm
Genes 1515
EPCAM BAP1 CYLD WT1 CTBP1 GLI3 CTNNB1 ELMO2 ATRX TERT EDN3 MTAP TSC2 RAD51 BLNK KCNAB2 WDPCP SPINK1 ARID1B PTEN STK11 XPA PTH1R TCF4 EPCAM NF1 GPC3 ERCC3 MC1R CASP10 PDGFRA RPL5 CDH1 BRIP1 RUNX1 KRAS SFTPC GPR35 MYLK STS DYNC2LI1 RAG2 CBL FOXE1 STAT3 TTC37 ABL1 NSD1 ATM KCNH1 GPR101 IGH KRT17 SUFU TERT KRAS GPC3 CYP11B2 MLH3 PTCH1 FAH MSH2 EXT1 CCND1 MSH3 ATP7A SEC23A PHOX2B HAX1 MYD88 LMO1 PIK3CA PRLR AXIN1 TCF4 RUNX1 AKT1 ERBB2 REST DCLRE1C SERPINA1 ERCC3 TMC6 RASA1 MSH3 TRNL1 CALR HRAS INS RNF113A SETBP1 CDH1 SLC37A4 TFAP2A CDH1 PTCH1 KIT PTEN IL1RN MLH3 MUTYH PTEN KIT GBA BCL2 KCNH1 GINS1 ESCO2 TET2 SLX4 DICER1 PALB2 NEK1 ESCO2 COL7A1 PTCH2 WT1 WRN GCM2 BRD4 BRAF TREX1 THPO SUFU NRAS CDC73 POU6F2 GNAS DAXX BUB3 RSPO1 MNX1 ERCC2 RPS28 ANTXR2 CTNNB1 POT1 FANCA KDM6B RET MST1 NOTCH3 FGFR1 KRAS LYST CHIC2 TMC6 MET KRT10 UROD SLC25A11 ARSA EVC2 TEK XRCC2 CASP8 ASCL1 IL1B TERF2IP DICER1 MPL OFD1 RHBDF2 DICER1 MDM2 WT1 MMP1 CDKN2A FGF8 NR4A3 FGFR2 OCRL TP53 ERCC2 SUFU ERCC4 ALX4 TINF2 DCLRE1C SRY SRP72 NF2 GNAS LETM1 TP53 FANCB TAL1 TDGF1 BRCA1 LEMD3 NF2 BRAF NUP214 RAD21 COL18A1 SDHD ICOS CEP57 BAP1 FANCM PTPRJ FANCE SLC22A18 PIK3R1 JAK2 FLT4 SMO WIPF1 DLST NF2 RAD50 MEN1 CHEK2 GPC4 WDPCP CYP2A6 HBB GANAB XRCC4 TET2 ATP7B EP300 DIS3L2 HFE CARD14 OFD1 ALX3 VANGL1 BAP1 SDHB EXTL3 PIK3CA GATA2 ALX3 BCL10 KIT WAS FGFR2 RMRP TWIST1 BMPR1B DIS3L2 ERCC3 FOXP1 SMAD4 CALR APC PCGF2 USP8 DMPK NRAS DKC1 BRCA1 ADAR BCR RSPO1 SLC45A2 GJC2 TNFRSF4 AKT1 IFIH1 MSH6 DICER1 PAX6 TGFBR2 SRY KLHDC8B CPLX1 MSH6 AIP PMS1 CREBBP ERCC2 CTSA APC MMP1 SH2B3 PKD1 TRNF SEC23B DNAJC21 STK11 BCR HBB MITF IGLL1 ALX4 MDH2 AKT1 SCN4A SDHAF2 PRKN PLA2G2A RNF43 DNMT3A TERT NSD2 RMRP FANCG BRCA2 CAT TP53 BMPR1A MAD2L2 SIX6 DDB2 GREM1 KRT17 PAX4 RPS17 TRPV3 ERCC4 C11ORF95 APC IL12RB1 BRIP1 PPM1D SDHB NODAL HNF1A FLT4 MSH6 ERCC6 BTK SLC26A4 SEMA3C AR NEK1 TERC RPL35A RPS20 CDKN1C SF3B1 TERC PTEN RFWD3 BRCA2 KCNQ1OT1 RPL10 ACTG2 MAGT1 ALK BLM H19 LEMD3 RPL31 MLLT10 PYGL RPL15 IRF1 CR2 MITF PTEN MYC PTPN11 TUBB TCF4 KCNQ1 NFKB2 ALX1 HLA-DRB1 APC EWSR1 NBN CDKN2A ERCC4 GCK DLL1 SLC25A11 PDGFB L2HGDH PRKCD CTC1 PIK3CA SUFU RPL27 KIF1B SRC CIB1 RECQL4 CDKN2B MSH3 BRCA2 PALB2 PDE6D SDHC SDHD CCL2 CHEK2 PMVK XPC STK11 PIK3CA MVD DHCR7 KIT GPC6 KARS1 MNX1 VHL TUBB NAB2 KEAP1 TSC1 NQO2 APC SDHB VHL TCTN3 RECQL4 PMS2 RAD51C STAG3 SNAI2 MAP3K8 SETBP1 SDHB NPM1 RAD51C RARA ERBB2 ERCC5 ATRX CHEK2 KRAS BRCA1 TFAP2A SLCO2A1 PHOX2B PTEN COL2A1 PIGL PDGFRA APC CPLANE1 AURKA SDHD LAMA3 VHL RPS26 GFI1B CDKN1B PRDM16 AXIN2 FZD2 AP2S1 LZTR1 TP53 TP53 GNA14 CTNNB1 MSTO1 PIK3CA RPS29 CALR DHX37 MYF6 SDHC MALT1 ELANE SDHD SLC26A4 MAP3K1 GDNF MSH2 SDHC TGFBR1 RUNX1 CREB1 CDKN2A TSC2 KRAS TNFRSF10B LMNA WWOX PHOX2B EDN3 RPS10 RSPRY1 TRIM37 RET MEN1 BCL10 MSH2 TNFRSF13C FOXE1 FANCC H19-ICR BLM ERCC6 LIG4 BDNF LMOD1 NF2 TMEM107 CYLD GJB2 EXT1 CTSC PHOX2B RAD51D RASGRP1 RB1 TGFBR2 SRY MYH8 KRAS TINF2 RECQL4 H19 PRF1 GDNF MXI1 SMPD1 WT1 HRAS COL1A1 PDGFRB FAS FANCD2 NF1 DISP1 PDGFRL IKBKG BIN1 BRCA2 ADA POLE AXIN2 SEMA4A KRAS NRAS PALB2 CHEK2 ASCL1 POLE TLR2 PIK3CA MINPP1 SOS1 CYLD CTLA4 POT1 ASXL1 CDC73 APC SAMD9L WT1 TRAF7 GATA4 PIK3CA DYNC2LI1 ATP7A CBFB MST1R GCGR MPL COL4A5 SMAD4 CDKN1A SDHD TRIM28 POLH GPR101 PIK3CA FLCN GPR143 RB1 SBDS SLC12A3 KLF6 ICOS GNB1 PIGA TYROBP GFI1 RAD51 SLC26A2 MC1R TREM2 SFTPA2 JAG1 BAP1 EGFR IGH KIT PLCB4 NLRP1 HNF1B ZFHX3 EPHB2 KLLN OCA2 WT1 FAH FH TERT SRD5A3 LIG4 NFKB1 RNF43 KIT STAT1 IFNG BMPR1A ERCC3 TBX18 TET2 MAP2K1 EXT2 HRAS RTEL1 FGFR3 PTEN CTNNB1 MAP2K2 MEN1 APC CLCNKB AKT1 ESCO2 CDC73 MS4A1 BRAF CRKL NUTM1 CDK4 NTHL1 ETV6 TET2 SQSTM1 FAM20C PIGL SEC23A ATM PALB2 TYR SRSF2 EXT2 GJB2 DNMT3A HRAS TCOF1 CHEK2 CDH1 FH DKC1 POLE PIK3CA PTCH2 AKT1 PAX3 FH ADAMTS3 APC PMS1 RAD51C PLCD1 PUF60 DIS3L2 CDH23 SCN9A FOXC2 SMARCB1 CDKN2A VANGL2 ENG SH2D1A SDHB SOX9 BRAF SDHA PGM3 ERCC2 GJB2 TBC1D24 CHD7 MPL DHH PTCH1 CALR IL12A TNFRSF13B CD28 MLH1 PTPN12 OFD1 MLH3 REST CCDC22 APPL1 COL14A1 IGH PSENEN IL2RG MC1R SMARCA4 CYLD KIF11 PHKG2 JAK2 COL2A1 AXIN2 FLNA WNT5A TYR EP300 GLI3 EXT2 MGAT2 KCNE3 ECE1 PARN IDH2 TSC1 ARL6IP6 FGFR3 SMAD4 HMBS SLC6A17 PRKAR1A BAP1 KDSR DHCR24 CXCR4 DDX41 GABRD RET NR0B1 DMRT3 CCND1 GDF5 POU6F2 CTLA4 TBXT FANCA NRTN PHKA2 KIT ITK RNASEH2A PERP CDC73 OFD1 CYP2D6 RET MEN1 CD27 PARN FUZ RPS19 MSH2 SMARCE1 TNFSF12 ZSWIM6 TERT RHOH NF1 BUB1B SLX4 LIG4 PDGFRL TNFSF15 OPCML APC PRKCD SETD2 RPS19 BRCA1 FAT4 ANTXR1 WNT10A SUFU TP63 EFL1 IL7 MN1 DOCK8 CDC73 SSX1 TMEM231 MPLKIP VHL MINPP1 BIRC3 PDX1 STS PSAP HNF1A JAK2 FANCL POT1 GNAS TERT CD79A KLF11 WRN MAPRE2 LIG4 CYSLTR2 DNM2 SH3GL1 KIT FOXH1 RELA KRAS PRKAR1A ERBB3 FGFR2 H19 TJP2 CD81 PNP MSH6 WT1 THPO ATP6V1B2 GNAQ BRCA1 WRAP53 ERCC3 CHRNG KRT14 TSC1 DLC1 CTNNB1 FGFRL1 SDHC GDNF HABP2 NRAS ATR TRNK BMPR1A TERT BRAF AKT1 XPC FGFR3 NUP214 TRIP13 SMARCD2 ZSWIM6 PIEZO2 EVC IL6 HRAS GPC4 TNFRSF13B PALLD CDKN2A POLR1D TP53 FOXO1 BRCA2 FIBP CDH23 RB1CC1 B3GALT6 FLT3 GJA1 SH2B3 MRAP MTOR AR FOXI1 TP53 GNAQ KRT6B MYD88 KRT16 TP53 NF1 MYSM1 MGMT KIT NF1 GPC4 GCM2 SIX3 PIK3CA RAD21 HRAS PMS2 ASCC1 BRCA2 GAS1 FASLG SDHD NRAS C2CD3 KDR SDHA SMAD4 SOX2 NBEAL2 SRGAP1 AGGF1 ATM AKT1 RPGRIP1L NOD2 BAX BRCA2 H19-ICR TGIF1 MAPK1 ESR1 EXT1 RPL11 KRAS BCL10 SKI LAMB3 XIAP SDHC HABP2 TRNS1 CCM2 FIBP PIK3CA TRIM28 HRAS SCN10A NF1 WT1 CPLANE1 HFE F5 C2CD3 GNPTAB TBX2 KLF6 GATA2 VEGFC RNASEH2B CBL SEMA3D ARMC5 CXCR4 JAK2 IGF2 FGFR2 NRAS UBE2T ARHGAP26 SCN11A MEN1 LMX1B F13A1 BCR COMP EDN1 SDHC ACTB GDNF CDKN2C ASPSCR1 NAGS PDGFRB PALB2 DLEC1 BCL10 STAR GNA11 PORCN RNR1 FLCN SPIB WT1 RET SDHB SLC22A18 ERCC4 CDKN2A CTHRC1 DLST OGG1 POLD1 DCC IL2RG REST SRP54 RAF1 TSC1 SRP54 IDH1 ACD KIT ACAN NSD2 TOP2A CASP10 DVL1 PTPN11 CASP10 STIM1 KRT9 AR CIB1 GNAS AR VAMP7 MRE11 GFI1 RPS14 BCL10 CACNA1S TP53 VANGL1 SKIV2L PTCH2 G6PC LRP5 PDGFRB BARD1 RPS27 RPS7 GNAS ENPP1 STAT6 ACVR1 MTM1 NEUROD1 TNFRSF13C PKD2 RUNX1 STK11 FGF3 TRIP13 SIX1 BRCA2 LAMC2 NELFA DVL3 GJB4 NSUN2 CDKN1B CTNNB1 POLR1C GJB3 SMARCB1 SBDS LMNA KRAS TRNH ECM1 STK4 ANTXR2 SOS1 BAP1 MSX2 DICER1 SDHB ACD WRAP53 BRCA1 ATP7A BUB1B RYR1 RET BRCA2 TP53 DPM1 BRCA2 BCR POLD1 TCIRG1 PTPN11 HOXD13 CR2 TARS1 JAK2 BMP2 MUTYH FLT3 TRNS2 MTMR14 NR5A1 ABCA5 RET AHCY TSC2 KIT KCNQ1OT1 RNF6 RAD54L HNF1A HMMR RNF139 WWOX TCTN3 BRAF FCN3 RNASEH2C AIP PRKN SF3B1 MSH6 NSD1 PTCH2 CCBE1 RECQL4 PMS2 ERCC2 HNF4A MMEL1 BUB1 TET2 TRPS1 ABCC6 RET IRF5 CDKN2B PDGFB USP9X TAL2 INTU GNAS HDAC4 MFN2 DYNC2H1 PIK3CA PLAG1 ATM MAX FAS PIK3CA CYP11B1 CCND1 H19-ICR PTCH1 MUTYH ABL1 ODC1 FGFR2 COL7A1 MSR1 BRCA1 RB1 TNFRSF1B COL7A1 FLT4 GPC3 TGFBR2 ATRX RAG1 PRCC BRAF TNFRSF1B FANCE RAD54L CBL SDHB TERT SDHD RPS24 FASLG MET KRT17 GATA1 ERBB2 FGFR1 KAT6B ABCA5 SDHAF2 SLC25A13 NOP10 GATA2 RFWD3 PDGFRA SPRTN MLH1 NKX2-1 IGF2R CD19 MAP3K1 TREX1 TRNP ZFPM2 CTNNB1 TRNQ WWOX IGHM MYH11 TMEM127 CDON NF2 SAMD9 PTEN RNASEL IDH2 HNF4A GTF2H5 GLI3 HRAS LPP DDB2 KIT PIK3CA PDCD10 HSPG2 HFE RPL26 BRIP1 ASXL1 SDHD CEBPA ACVRL1 NRAS CD19 GNAQ TET2 TCTN3 SMARCB1 FLCN ABCB11 BLK RAD54B SDHC FH AKT1 ANTXR1 FANCF HNF1B EXOC6B SAMHD1 SHOX MYO1H COL11A2 KCNJ10 TRIP13 CC2D2A LZTS1 SEC23B GPR101 DOCK8 BRCA2 NBN SLC26A2 SPRED1 VHL KRT1 LIN28B GTF2E2 NRAS ZIC2 SNAI2 SH3KBP1 SHOX BCL6 NTHL1 RHBDF2 CD28 MCM4 CCND1 FANCG SMARCAD1 GATA2 RERE YY1 ASXL1 IL7R TMEM67 C1S TAF1 FGFR3 NBN KRAS KIF1B AIP KCNJ11 LETM1 FANCI MLH1 MBTPS2 NRAS NEK9 GNAI3 APC2 EYA1 ZAP70 EXT2 BUB1 SSX2 LIG4 CARMIL2 SLC17A9 TMC8 PCNA EPAS1 TFE3 BRCA2 DHH MAP2K1 CASP8 CDK4 PDGFB RTEL1 EWSR1 PTEN VHL GJB6 NDP RNF6 TNPO3 TGFBR2 TXNRD2 PNP TAF15 TRNK SMO NOTCH1 LRRC8A RASA1 TSC2 ABCC8 PRKAR1A BAX IDH1 SLC22A18 ADA FAN1 TG PTEN BMPR1A MSTO1 ERCC5 IRF1 MLH1 NRAS MLH1 PICALM FANCD2 SF3B1 BICC1 RPS15A TERT KLLN ELANE FAM149B1 GATA1 SASH1 INPP5E TP53 WT1 BMPR1A PTPN11 PTPN11 MYCN XPA EDNRB TP53 FLI1 GDF2 PHB BMPER FGFR3 PTEN MCC EXT1 MC2R KCNN3 DNASE1L3 DHCR7 RASGRP1 SHH NPM1 SLC26A2 SLC37A4 IGF2 RPL18 SH2B3 PTCH1 BRAF PAX7 INHBA BMPR1A KIF7 XRCC3 IGF2 POU2AF1 DNAJC21 CYP26C1 RB1 MPL REST KIAA0753 DNMT3A ERCC6 MUC5B MLH3 ASXL1 MPL NOTCH3 KCNJ10 SMARCE1 TSR2 RPL10 KRT1 SLC25A13 WT1 NNT TP53 GNA11 GLI1 BARD1 FLCN COL7A1 SRP54 GLI2 EDN3 PTPN3 WT1 TMEM127 CD79B GATA2 TERC FN1 EIF2AK4 RAD51 WASHC5 SAMD9L AIP TP53 AAGAB RB1 TP53 KRT5 ADA2 HSPA9 PIK3CA SRSF2 PHF21A IDH1 KRAS KRAS CHEK2 BUB1B RET FANCC TP53 WHCR RAD54B NUMA1 SDHB HMBS TMEM216 SMAD4 MAFA MSH2 RPL35 CDKN1B IGF2 PPP2R1B CD70 CEL MAD1L1 MAX ALK GPC3 FERMT1 KIF1B TCF3 POLH PIK3R1 USF3 FDPS MYC DNAJC21 TNFSF12 HACE1 CDH1 SDHA ND5 NHP2 PIK3CA RPS14 NBN WNT10A ING1 CASR SUFU FGFR3 HPGD BTK ENG DCC CASP8 PHOX2B STAC3 USB1 KRIT1 PHOX2B TET2 SMAD4 JAK2 BCHE APC MVK SMAD7 SMO DKC1 SMARCB1 VHL F13B TINF2 USP8 FGFR1 FOXI1 TET2 CD96 TET2 JAK2 KRAS Protein Mutations 75
C10D C377T C677T C797S D816V D835V D842V E10A E17K E542K E545K F1174L F31I G12C G12D G12V G13D G156A G20210A G719A G719C H1047R H1112L H1112Y H1124D K652E L1213V L265P L858R L861Q M1149T M1268T P1009S P13K P1446A P286R P4503A Q12H Q21D R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W R988C T1010I T1191I T315I T790M V1110L V1206L V1238I V411L V57I V600D V600E V600K V600M V600R V617F V941L Y1248C Y1248D Y1248H Y1253D Y842C HP:0100526: Neoplasm of the lung
Genes 62
ERCC6 PRKN SFTPA2 IRF1 EGFR SLC22A18 FASLG TSC2 NAB2 KEAP1 DICER1 TSC1 REST TRPV3 CYP2A6 TSC1 TSC2 PTEN WRN STK11 C11ORF95 TSC1 MAP3K8 BAP1 ERBB2 POU6F2 MBTPS2 RELA PPP2R1B SLCO2A1 SFTPC TSC1 H19 TP53 DIS3L2 PERP CASP8 PDGFRB RB1 EWSR1 STAT6 KRAS MUC5B TRIM28 TERT NOTCH3 DICER1 GPC3 WT1 TRIP13 HPGD WT1 WT1 AKT1 PIK3CA TP53 TSC2 TRIM28 LMNA BRCA2 DICER1 BRAF Protein Mutations 52
C1156Y C797S D594G F1174C F1174V G1202R G1269A G12C G12D G469A G719A G719C G719S G776C G776V I10A L1196M L1198F L523S L755S L833F L8585R L858R L859R L861G L861Q L861R N375S P13K P4503A R776G R831C S1400A S1400C S1400D S1400E S1400F S1400G S1400I S1400K S1800A S1900A S1900C S1900D S768I T790M T81C T890M V600E V769L V777L V843I HP:0004950: Peripheral arterial stenosis
Genes 31
AGXT TGFB3 ACTA2 PCSK9 LDLR APOB JAK2 SMAD4 MPL PRKG1 MAT2A SMAD3 FBN1 MFAP5 ABCG8 TGFBR1 TGFB2 ELN ABCC6 ABCG5 LMNA LOX FOXE3 TGFBR2 MYH11 ELN APOE MYH11 LDLRAP1 THPO MYLK Protein Mutations 1
G20210A SNP 0
HP:0000083: Renal insufficiency
Genes 432
GATM DYNC2LI1 SMARCAL1 TMEM231 TMEM231 LIMK1 SDCCAG8 GRHPR TSC2 STS AMMECR1 FAN1 LPIN1 FANCL MAGI2 NPHP4 CLCN5 OCRL PEX7 SIX5 MEFV ELN IL12A-AS1 CASP10 CTLA4 NUP160 CC2D2A BRIP1 IFT27 GPR35 TMEM138 GATA3 FXYD2 SAA1 GLA UMOD CCR1 CCR6 ZNF592 CLCN5 KLRC4 ERCC8 CRB2 CFH AGXT LRIG2 IFT172 GRHPR HLA-B TCF4 TRNK MOCOS CFI CEP290 SLC7A7 HPRT1 HRAS CFI DSTYK SLC37A4 TRNT BSCL2 IFT43 MYD88 PHYH SLX4 CLDN16 DZIP1L CD46 OCLN WT1 FASLG NUP93 GCM2 RAD21 C4A CORIN RPGRIP1L NOD2 AQP2 KIAA0586 SCARB2 FANCA INVS ABCA12 MST1 GLA NPHS2 CLCN5 SCNN1A MAPKBP1 XRCC2 FOS CEP290 WDR19 WT1 OFD1 PUS3 FAM20A PAX2 NUP133 SPP1 TRAF3IP1 HLA-DPB1 OCRL UBE2T LZTFL1 TMEM216 DHDDS BNC2 MEN1 AGPAT2 LMX1B NPHP1 SMC1A GTF2IRD1 IFT80 PPARG FANCB FAS SLC22A12 TTC21B MYH9 IL12A SEC61A1 WT1 GSN FANCM RFC2 ERCC4 IQCB1 IRF5 ERCC6 SGPL1 CAV1 GANAB PKHD1 CC2D2A MUC1 EYA1 ERCC4 CD2AP CLIP2 COL4A3 HPSE2 PYGM DCDC2 STAT4 SLC34A1 IL23R SIX1 VANGL1 CFH CFI ERAP1 INF2 ITGA3 HBB MAFB CFH NLRP3 PKD2 BICC1 CFHR5 DNAJB11 CTNS BRCA2 CACNA1S NPHP1 CD151 TGM1 PAX6 CCND1 TMEM126B CFHR1 PAX2 RPGRIP1L PKD1 RAD51C PGAM2 BRCA1 IRAK1 CHRM3 CLDN10 PRTN3 WDR35 GSN EHMT1 HLA-B ELP1 ALMS1 ELN TRNL1 PNPLA6 MAD2L2 SULT2B1 IQCB1 WDR19 WDR19 NUP107 LCAT PRDX1 CAV1 TMEM67 CPT2 SPRY2 PBX1 KMT2A COL4A1 TRAF3IP1 TTC21B AGXT STOX1 LAMB2 LEMD3 BBS10 TMEM67 CTNS FAS MMUT C3 HNF1B ACTN4 COL7A1 IFT122 HSD11B2 TPRKB NPHP1 HDAC8 PALB2 LIPN SDR9C7 CEP120 PAX2 FANCE ACSL4 TMEM237 NOTCH2 TMEM67 NPHP1 IFT172 EIF2AK3 RFWD3 NPHP3 PGK1 NEK8 ALMS1 TRPC6 CPT2 CLCNKA LHX1 AVPR2 NIPBL HNF4A CYP4F22 SALL1 CHD4 AP2S1 SCNN1B SLC7A9 SCNN1B DYNC2I1 NPHP1 APRT ALDOB IFT140 TRNE LAGE3 FANCF HNF1B HNF1B IFT140 NPHP3 CC2D2A NUP85 TP53RK THBD MMUT LMX1B LRIG2 CPT2 SMC3 CEP290 HLA-DRB1 ANLN PGK1 XPNPEP3 FANCG FUZ COL4A3 NUP205 COG1 TMEM67 NIPAL4 MLXIPL HOXA13 APOE FLT1 SALL1 CFB NUP107 LAMB2 FANCI IKZF1 UBAC2 FAS PKD1 FANCD2 MMACHC LMX1B PLCE1 PTPN22 TCN2 SIX5 DGKE BAZ1B APOL1 CDC73 CLCNKB NPHP3 ALOXE3 PKD2 APRT HLA-DPA1 SHPK COL4A5 TLR4 CLPB CLCN5 RMND1 CAVIN1 ZNF423 REN RAD51 NPHP4 DYNC2H1 JAG1 FAM20A DACT1 MMUT PKHD1 BICC1 COL4A4 CPT2 WT1 FAH TBC1D8B INPP5E C3 WT1 GTF2I CEP83 TBX18 ANKS6 OCRL KYNU GLIS2 UMOD DNASE1L3 KCNE5 CDC73 IL10 TTC21B RASGRP1 NPHS1 STAT4 TMEM67 SH2B1 TMEM237 NPHP3 MEFV TMEM260 AHI1 COL4A1 CEP164 PRPS1 MEFV INVS RAD51C BTNL2 PTPN22 CEP290 SLC3A1 SDCCAG8 FN1 BBIP1 FN1 HPS1 RPGRIP1L SETD5 MYO1E COQ8B ALOX12B FANCC TSC1 TBL2 AMMECR1 HMBS DZIP1L RYR1 HELLPAR DYNC2I2 MME ARHGDIA KCTD1 GATA3 CCNQ WDR73 WDR19 CSPP1 CDC73 HLA-DRB1 LDHA NPHP4 CLDN19 UMOD CD46 HPRT1 EIF2AK3 SARS2 WDR19 HPRT1 PRKCD BSND CCN2 SCNN1G SLC30A9 SLC26A1 WDR73 CFHR3 OSGEP SOX18 SNP 0
Primary Outcomes
Description: The primary outcome is the proportion of patients who have a goals-of-care (GOC) discussion that has been documented in the EHR in the period between randomization and 30 days following randomization The proportion is the number of patients with GOC documentation over the number of patients in each study arm. Documentation of goals-of-care discussions will be evaluated using our NLP/ML methods. Study staff will manually review and compare findings using a randomly-selected sample of charts using our standard EHR abstraction methods; manual chart abstraction will be the gold standard.
Measure: EHR documentation of Goals of Care discussions Time: Assessed for the period between randomization and 30 days following randomizationSecondary Outcomes
Description: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of ICU admissions during the patient's (index) hospital stay will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care/ICU use: ICU admissions Time: Assessed for the period between randomization and 30 days following randomizationDescription: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of days the patient spent in the ICU during their (index) hospital stay will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care/ICU use: ICU length of stay Time: Assessed for the period between randomization and 30 days following randomizationDescription: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of days the patient spent in the hospital during that (index) hospital stay will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care/Hospital use: Hospital length of stay Time: Assessed for the period between randomization and 30 days following randomizationDescription: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of hospital readmissions between randomization and 30 days following randomization will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care: Hospital Readmissions 30 days Time: Assessed for the period between randomization and 30 days following randomizationDescription: Secondary outcomes include measures of intensity of care, including utilization metrics: Number of ICU readmissions between randomization and 30 days following randomization will be collected from the EHR using our automated and validated methods.
Measure: Intensity of care: ICU Readmissions 30 days Time: Assessed for the period between randomization and 30 days following randomizationDescription: Costs for intervention vs. control will be reported in US dollars and identified from UW Medicine administrative financial databases. Costs will be reported for total hospital costs and disaggregated costs (direct-variable, direct fixed, indirect costs). Direct-variable costs will include supply and drug costs. Direct-fixed costs will include labor, clinical department administration, and overhead fees. Indirect costs represent services provided by cost centers not directly linked to patient care such as information technology and environmental services. Costs for ED (emergency department) days and ICU days will be similarly assessed.
Measure: Intensity of care: Healthcare costs Time: 1 and 3 months after randomizationDescription: From Washington State death certificates.
Measure: All-cause mortality at 1 year (safety outcome) Time: 1 year after randomizationOther Outcomes
Description: Qualitative interviews after individual participation. Interviews will be guided by the RE-AIM and Consolidated Framework for Implementation Research (CFIR) to explore the factors associated with implementation (e.g., reach, maintenance, feasibility, inner and outer settings, individuals, and processes of care.) Individual constructs within these domains were chosen to fit this specific intervention and context.
Measure: Key Implementation Factors Time: 3 months after randomization