SNPMiner Trials by Shray Alag


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Report for Mutation Y93H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Safety, Tolerability, and Efficacy of Daclatasvir and Asunaprevir, With or Without BMS-791325, in Subjects Coinfected With HIV-HCV

Chronic hepatitis C virus (HCV) infection is a major public health problem with an estimated 180 million people infected worldwide. In the United States an estimated 4.1 million people are infected and HCV is the principal cause of death from liver disease and leading indication for liver transplantation. Within HIV/HCV co-infected patients, liver disease due to Hepatitis C progresses even more rapidly. While combination of ribavirin (RBV) and pegylated interferon (PEG) in combination with boceprevir/telaprevir is the currently recommended therapy for chronic HCV infection and has superior cure rates compared to PEG+RBV alone in HCV monoinfected patients, treatment is still associated with a high incidence of adverse events (AEs), discontinuations and poor cure rates in several populations. Within the HIV/HCV co-infected population treatment for HCV remains complicated given drug interactions between anti-retrovirals and HCV protease inhibitors, in addition to the extensive side-effects due to PEG +RBV alone. Recent studies have demonstrated that the use of a combination of anti-virals which target HCV without interferon (IFN) can cure HCV, without additional toxicities. These novel therapies that do not rely on an IFN backbone may additionally enhance cure rates in HIV/HCV co-infected, a population which has historically been difficult to cure. The findings from this study will aid in the understanding of antiviral and host responses and determinants of response to an IFN free regimen in HIV/HCV co-infected patients.

NCT02124044 HIV-HCV Drug: Asunaprevir and Daclatasvir Drug: Asunaprevir and Daclatasvir with BMS-791325

Chronic liver disease of a non-HCV etiology (e.g., hemochromatosis, Wilson s disease, alfa-1 antitrypsin deficiency, cholangitis) 2. Positive nucleotide sequence analyses of the NS5A gene for Y93H or L31M/V polymorphisms for the 2DAA arm only. --- Y93H ---

Primary Outcomes

Description: The primary outcome was the percentage of patients with sustained viral response measured 12 weeks after the stop of treatment. The viral response was assessed by serum HCV RNA concentrations lower than 43 IU/mL - the lower limit of quantification.

Measure: The Percentage of Subjects Who Achieve Sustained Viral Response (SVR12) 12 Weeks After the Stop of Treatment Drugs

Time: 12 weeks after stop of treatment

2 A Phase 2, Open-label Study to Investigate the Efficacy and Safety of the Combination of Simeprevir and Daclatasvir in Chronic Hepatitis C Genotype 1b-Infected Subjects

The purpose of this study is to determine the efficacy of a 12- or 24-week treatment regimen of simeprevir in combination with daclatasvir, as measured by sustain virologic response 12 (SVR12), in treatment-naive, chronic hepatitis C virus (HCV) genotype 1b-infected participants who have advanced fibrosis or compensated cirrhosis (METAVIR F3/F4).

NCT02268864 Hepatitis C, Chronic Drug: Simeprevir Drug: Daclatasvir
MeSH: Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis
HPO: Hepatitis

For cirrhotic participants (METAVIR score F4) a biopsy performed at any previous time is acceptable - Participants who have cirrhosis must have an hepatic imaging procedure (ultrasound, computed tomography [CT] scan or magnetic resonance imaging [MRI]) within 6 months prior to the Screening visit (or between Screening and Day 1) with no findings suspicious for hepatocellular carcinoma - Participant must have a body mass index (BMI) >= 18 Kilogram per meter^2 (kg/m^2) - Participant must be treatment naive (that is, have not received prior treatment for HCV with any approved or investigational drug) Exclusion Criteria: - Participant has co-infection with HCV of another genotype; a) Participant who has HCV genotype 1b has coinfection with HCV of a genotype other than genotype 1b - Chronic HCV genotype 1b-infected participant who has the presence of genetic variants coding for the NS5A-Y93H and/or L31M/V amino acid substitutions at Screening - Participant has evidence of current or previous episodes of hepatic decompensation (including controlled or uncontrolled ascites, bleeding varices or hepatic encephalopathy) - Participant has chronic liver disease of a non-HCV etiology (including but not limited to hemochromatosis, Wilson's disease, alfa 1-antitrypsin deficiency, cholangitis, drug- or alcohol-related liver disease, primary biliary cirrhosis) - Participant has any other uncontrolled clinically significant disease or clinically significant findings during Screening that in the opinion of the investigator could compromise the participants' safety or could interfere with the participant participating in and completing the study - Participant has coinfection with hepatitis A or hepatitis B virus (hepatitis A antibody immunoglobulin M [IgM] or hepatitis B surface antigen [HBsAg] positive at Screening) - Participant has received a solid organ transplant Inclusion Criteria: - Participant must have chronic Hepatitis C virus (HCV) genotype 1b infection confirmed at Screening - Participant must have HCV ribonucleic acid (RNA) greater than (>) 10,000 international unit per milliliter (IU/mL) at Screening - Participant must have documented fibrosis stage at Screening (or between Screening and Day 1 [baseline]). --- Y93H ---

For cirrhotic participants (METAVIR score F4) a biopsy performed at any previous time is acceptable - Participants who have cirrhosis must have an hepatic imaging procedure (ultrasound, computed tomography [CT] scan or magnetic resonance imaging [MRI]) within 6 months prior to the Screening visit (or between Screening and Day 1) with no findings suspicious for hepatocellular carcinoma - Participant must have a body mass index (BMI) >= 18 Kilogram per meter^2 (kg/m^2) - Participant must be treatment naive (that is, have not received prior treatment for HCV with any approved or investigational drug) Exclusion Criteria: - Participant has co-infection with HCV of another genotype; a) Participant who has HCV genotype 1b has coinfection with HCV of a genotype other than genotype 1b - Chronic HCV genotype 1b-infected participant who has the presence of genetic variants coding for the NS5A-Y93H and/or L31M/V amino acid substitutions at Screening - Participant has evidence of current or previous episodes of hepatic decompensation (including controlled or uncontrolled ascites, bleeding varices or hepatic encephalopathy) - Participant has chronic liver disease of a non-HCV etiology (including but not limited to hemochromatosis, Wilson's disease, alfa 1-antitrypsin deficiency, cholangitis, drug- or alcohol-related liver disease, primary biliary cirrhosis) - Participant has any other uncontrolled clinically significant disease or clinically significant findings during Screening that in the opinion of the investigator could compromise the participants' safety or could interfere with the participant participating in and completing the study - Participant has coinfection with hepatitis A or hepatitis B virus (hepatitis A antibody immunoglobulin M [IgM] or hepatitis B surface antigen [HBsAg] positive at Screening) - Participant has received a solid organ transplant Hepatitis C, Chronic Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis This is an open-label (all people know which treatment the participants receive) study to investigate the efficacy, safety and tolerability of simeprevir and daclatasvir in chronic Hepatitis (inflammation of the liver) C virus (HCV) genotype 1b infected participants who are treatment-naive. --- Y93H ---

Primary Outcomes

Description: Participants were considered to have reached SVR12, if 12 weeks after the actual end of treatment (EOT), hepatitis C virus (HCV) ribonucleic acid (RNA) was less than lower limit of quantification ( Measure: Percentage of Participants With Sustained Virologic Response 12 Weeks After End of Study Drug Treatment (SVR12)

Time: At 12 weeks after end of treatment

Secondary Outcomes

Description: Participants were considered to have reached SVR4, if 4 weeks after the actual EOT, HCV RNA was Measure: Percentage of Participants With Sustained Virologic Response 4 Weeks After End of Study Drug Treatment (SVR4)

Time: At 4 weeks after actual EOT

Description: Participants were considered to have reached SVR24, if 24 weeks after the actual EOT, HCV RNA was Measure: Percentage of Participants With SVR 24 Weeks After End of Study Drug Treatment (SVR 24)

Time: At 24 weeks after actual EOT

Description: Participants were considered on-treatment failures if they did not achieve SVR12 and had (confirmed) detectable HCV RNA, ie, =) LLOQ at EOT.

Measure: Percentage of Participants With On-treatment Failure

Time: Up to Week 24 after actual EOT

Description: Participants were considered to have had viral breakthrough if they had a confirmed greater than (>) 1.0 log10 international units/milliliter (IU/mL) increase in HCV RNA from nadir OR confirmed HCV RNA >100 IU/mL while previously having achieved HCV RNA Measure: Number of Participants With Viral Breakthrough

Time: Up to Week 24

Description: Participants were considered to have had viral relapse if they did not achieve SVR12 and met the following conditions: had HCV RNA =LLOQ during the follow-up period.

Measure: Number of Participants With Viral Relapse

Time: Up to Week 24 after actual EOT

3 The Safety and Efficacy of Daclatasvir and Asunaprevir With Chronic HCV Genotype 1b Infection and Chronic Renal Failure

Safety and Efficacy of DAAs (Daclatasvir+Asunaprevir) in patients with chronic hepatitis C and chronic renal failure will be assessed.

NCT02580474 Hepatitis C Drug: Daclatasvir plus Asunaprevir
MeSH: Hepatitis C Renal Insufficiency Kidney Failure, Chronic
HPO: Renal insufficiency

Last dose in this previous HCV treatment course should have occurred at least 2 months prior to screening - No baseline mutation NS5A polymorphism including L31F/I/M/V and Y93H Exclusion Criteria: - A patient who having received Daclatasvir or Asunaprevir - Pregnant women, women who are breastfeeding or who believe they may wish to become pregnant during the course of the study - Evidence of a medical condition contributing to chronic liver disease other than HCV or seropositive for HIV - Diagnosed or suspected hepatocellular carcinoma or other malignancies - Any history of, or current evidence of, clinical hepatic decompensation (e.g., ascites, encephalopathy or variceal hemorrhage) - Received solid organ or bone marrow transplant - Current alcohol or substance abuse judged by the investigator to potentially interfere with subject compliance - Significant renal, cardiovascular, pulmonary, or neurological disease and uncontrolled diabetes or hypertension in the opinion of the investigator - Known hypersensitivity to study drugs, metabolites, or formulation excipients - Who has taken investigational drugs within 2 months. --- L31F --- --- Y93H ---

Primary Outcomes

Measure: the proportion of subjects with plasma HCV RNA levels below 15 IU/mL at Week 12 After End of Treatment

Time: 36 Week

Secondary Outcomes

Measure: To evaluate the percentage of subjects with Sustained Virologic Response at Week 12 After End of Treatment

Time: 36 Week

Measure: Percentage of subjects with ALT normalization at each visit from the baseline

Time: 4, 12, 24, 36 week

Measure: Change in HCV RNA at each visit from the baseline

Time: 4, 12, 24, 36 week

Measure: Percentage of subjects who experience viral breakthrough at each visit from the baseline

Time: 4, 12, 24, 36 week

Measure: Percentage of subjects who shows Tolerability of Daclatasvir and Asunaprevir at each visit from

Time: 4, 12, 24, 36 week

4 An Open-Label Study to Evaluate the Safety and Efficacy of Ombitasvir/Paritaprevir/Ritonavir in Japanese Adults With Genotype 1b Chronic Hepatitis C Virus (HCV) Infection With End Stage Renal Disease on Hemodialysis (GIFT-R)

The purpose of this multicenter, single-arm, combination-drug study, which includes 12 weeks of treatment and 24 weeks of follow-up, is to evaluate the safety, efficacy and pharmacokinetics of ombitasvir/paritaprevir/ritonavir in Japanese adults infected with HCV GT1b, who are treatment-naïve or treatment-experienced to an IFN-based regimen and who have ESRD on HD.

NCT02806362 Chronic Hepatitis C Virus Drug: Ombitasvir/paritaprevir/ritonavir
MeSH: Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis Hepatitis, Chronic Kidney Diseases Kidney Failure, Chronic
HPO: Abnormality of the kidney Chronic active hepatitis Chronic hepatitis Hepatitis Nephropathy

Exclusion Criteria: - Presence of Y93H variant at Screening - Positive test result for Hepatitis B surface antigen (HBsAg) or anti-Human immunodeficiency virus antibody (HIV Ab) - Significant liver disease with any cause other than chronic HCV infection - On peritoneal dialysis - On hemodialysis for more than 15 years Inclusion Criteria: - Females must be practicing specific forms of birth control on study treatment, or be post-menopausal for more than 2 years or surgically sterile - Hepatitis C Virus (HCV) Ribonucleic acid (RNA) greater than 10,000 IU/mL at Screening - Chronic HCV, Genotype (GT)1b infection - Treatment-naive or treatment-experienced with an interferon (IFN)-containing regimen (IFN or pegylated-IFN with or without ribavirin). --- Y93H ---

Exclusion Criteria: - Presence of Y93H variant at Screening - Positive test result for Hepatitis B surface antigen (HBsAg) or anti-Human immunodeficiency virus antibody (HIV Ab) - Significant liver disease with any cause other than chronic HCV infection - On peritoneal dialysis - On hemodialysis for more than 15 years Chronic Hepatitis C Virus Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis Hepatitis, Chronic Kidney Diseases Kidney Failure, Chronic null --- Y93H ---

Primary Outcomes

Description: SVR12 defined as the hepatitis C virus (HCV) ribonucleic acid (RNA) level less than the lower limit of quantification (LLOQ) 12 weeks after the last dose of study drug.

Measure: Percentage of participants achieving a 12-week sustained virologic response (SVR12).

Time: 12 weeks after the last dose of study drug

Secondary Outcomes

Description: On-treatment virologic failure was defined as the following: Confirmed increase from nadir in HCV RNA (2 consecutive HCV RNA measurements greater than 1 log10 IU/mL above nadir) at any time point during treatment; or Confirmed HCV RNA greater than or equal to LLOQ after HCV RNA is less than LLOQ during treatment; or HCV RNA greater than or equal to LLOQ persistently during treatment with at least 6 weeks of treatment.

Measure: Percentage of participants with on-treatment virologic failure

Time: Up to Week 12

Description: Participants with a confirmed HCV RNA greater than or equal to the LLOQ between Final treatment visit and 12 weeks after the last dose of study drug among participants completing treatment and with HCV RNA less than LLOQ at Final treatment visit.

Measure: Percentage of participants with relapse

Time: Up to 12 weeks after the last dose of study drug

5 Treatment Efficacy and Safety of 12 Weeks of Daclatasvir, Asunaprevir Plus Ribavirin for HCV Genotype 1b Without Baseline NS5A Resistance-associated Variants (DARING)

A single-arm, multi-center study of HCV-1b patients without baseline non-structure protein (NS5A) resistance-associated variants. Daclatasvir (60mg/day) and asunaprevir (100 mg twice daily) plus weight-based ribavirin (1000-1200 mg/d) for 12 weeks will be prescribed.

NCT03004625 Hepatitis C Drug: daclatasvir Drug: asunaprevir Drug: Ribavirin
MeSH: Hepatitis C

The existence of baseline NS5A RAV "Lycine 31 (L31F/I/M)" or "Tyrosine93 (Y93H)", by using direct-sequencing with RAV of > 20%. --- L31F --- --- Y93H ---

Primary Outcomes

Description: SVR12 is defined as undetectable HCV RNA 12 weeks throughout 12 weeks of post-treatment follow-up peroid

Measure: To determine the treatment efficacy (SVR12) of 12 weeks of daclatasvir and asunaprevir plus ribavirin for HCV-1b patients without baseline RAVs

Time: 6 months (including 3 months of treatment and 3 months of post-treatment follow-up peroid

Secondary Outcomes

Measure: To evaluate the number of participants with treatment-related adverse events of 12 weeks of daclatasvir and asunaprevir plus ribavirin for HCV-1b patients without baseline RAVs.

Time: 3 months

6 Safety of Sofosbuvir Plus Daclatasvir in Patients With Chronic Hepatitis c Virus and Assessment of Resistance Associated Variants in Resistant and Relapsed Cases

To identify side effects of Sofosbuvir/ Daclatasvir treatment regimen of chronic HCV GT-4 infection. - To assess the occurrence and the prevalence of RAVs in patients with treatment failure and relapse after sofosbuvir and daclatasvir with assessment of their types . - To examine the GT4 subtypes by phylogenetic analysis and baseline sequence variability among subtypes and their potential impact on treatment outcome and development of viral resistance in patients who received a regimen of Sofosbuvir/ Daclatasvir for treatment of chronic HCV GT-4. - To assess the differences in patient demographics across GT4 subtypes.

NCT03572140 HCV Diagnostic Test: RAVS In relapsed and resistent cases

NS5A RAVs can be very common, with Y93H detected in up to 15% of the population and L31M in up to 6.3%. --- Y93H ---

Primary Outcomes

Description: that may be used in the future to predict the response to Sofosbuvir and this will save a huge cost for Egypt .

Measure: relevance of HC RAVs to the outcomes of therapy with Sofosbuvir in treatment of egyptian patients infected with HCV genotype 4

Time: baseline


HPO Nodes


Hepatitis
Genes 90
CD247 CTNNB1 ATP7B CASP10 PIEZO1 GUSB BLNK SHPK CYP7A1 IL17RA IGF2R CASP8 SH2D1A SLC25A15 BTK BTK C4B CD79B VPS33B XIAP SERPINA1 PIK3R1 GLIS3 POU2AF1 CIITA FOXP3 TPP2 RFX5 CIITA RASGRP1 RFXANK SLC25A15 AXIN1 TCF4 CD3D TP53 IL12A PRKCD CD40LG BTK IGHM IL17RC ALMS1 TRAF3IP2 KRT8 FAS LRRC8A FAS IL17F XIAP SPIB C1S RFX5 RFXAP MST1 TTC7A COG8 SKIV2L VIPAS39 IGLL1 PDGFRL TNFSF15 HSD3B7 CD3E AMACR ATP7B FASLG RFXANK IL12RB1 TCF3 CD79A KRT18 IRF5 MET PIK3CA MMEL1 ITCH TBX19 IL21R AIRE RFXAP TTC7A CLEC7A GPR35 ATP7A CYP7B1 STAT1 PGM1 APC TNPO3
Abnormality of the kidney
Genes 1660
GPC3 UBR1 FAT4 GLI3 IL17RA SOX9 STRA6 CASP10 PIGL PLCE1 SDCCAG8 KRT17 GLI1 SDHD COL4A4 LRP4 NDUFB10 LMNA FAT4 FGF8 WAS TXNL4A ROR2 CTU2 REN ENPP1 PLG LRP5 HSD11B2 GBA RAB23 AXIN2 DYNC2LI1 WDR19 SPRY2 ASXL1 PNPLA6 PIGV TBX1 NPHP4 TMEM67 CFH BLK MYO1E ZFPM2 SPINK5 HIRA GBE1 ALG9 WDR60 CFHR5 MCTP2 BUB1B LHX1 BCOR HLA-DPB1 KAT6B PET100 MEFV SF3B4 SSR4 IL10 PYCR2 CDK6 WDR73 SLC36A2 YAP1 PIK3C2A B3GLCT FCGR2A COG6 B9D2 IGF2 OGG1 ITGB4 HPRT1 IFT27 NUP205 COQ8B CWC27 RNU4ATAC LDLRAP1 GTF2I CCNQ SLC25A22 RPGRIP1L ZNF687 COA8 FAM20C RPS26 ACVRL1 VPS33B COPB2 GABBR2 RECQL4 CYP4F22 DLL1 ITGA2B ND4 CCR6 ND2 DCHS1 C1R BBS7 KLLN OCRL SIX3 PEX6 TRNE CD81 CHD7 CRB2 BRCA1 WDR35 ETFB MARS1 FLNB DVL1 LETM1 MAP2K2 HRAS WT1 NDUFB8 NEK8 GREB1L KCTD1 CEP41 ARID1B LRIG2 SERPINF2 GATA3 CC2D2A SDHB GPC4 XDH LDLR AR SAA1 MET ALG9 CLDN10 DUSP6 PACS1 SDHD EFEMP2 SMARCC2 AGGF1 MAP2K1 PIGA ESCO2 ITGA3 HNF1A CFI ALG1 RAD51C DNAJB11 DGKE MINPP1 APOA1 TTR KIF14 AFF4 FLNA ZAP70 WDR34 GLA MYH11 NDUFAF1 DYNC2LI1 KCNJ11 HYLS1 VHL ATP6 TTC21B RAD51C DDX59 RMRP FGA COL5A2 VAMP7 NDUFB3 APOB CCR1 SON PDE6D GP1BA KCNQ1OT1 STRA6 FANCD2 GAS1 KMT2D FAM20A ATRX RFC2 FAM20A WIPF1 TRNT CLDN19 PTH1R SLC37A4 TBC1D20 SRY TRNQ PTPN22 TRNN IL17F MEFV FIBP SCARB2 FANCI RPGRIP1L GP9 UMPS MKKS NSD2 MAP3K1 BSCL2 VANGL1 MAD2L2 PTPN22 SEMA3A SLC3A1 TMEM216 SCN2A OFD1 SMARCAL1 WDR4 UMOD GPR35 FGF10 FANCA COL4A4 HLA-DPA1 CD96 SLX4 STIL CEP290 TAPT1 CEP55 SIX5 MKS1 SCNN1A CEP83 FLNA BBS2 OSGEP PLVAP KMT2D LAMB2 PPP2R3C SMC1A TSC1 MICOS13 HNF1B TP53 FUT8 WT1 ZNF592 RFWD3 TMEM67 NPHP1 HLA-DRB1 BRAF BUB1 LPIN1 ELN TACR3 LRIG2 ITGB3 EMP2 PDSS2 NDUFV1 FREM2 SMOC1 LIPN PLD1 SLC2A2 FGFR3 ACSL4 PTPN11 SHANK3 KANSL1 ALPL SDHB PALB2 MYMK HNF1A KAT6A UMOD GPKOW SLC30A9 TREX1 WDR4 SNAP29 CCDC141 WASHC5 ND3 NPHP3 INS HPSE2 TSC2 NDUFS7 BUB1 CENPF SHH ERAP1 CEP290 COPA PEX12 EYA1 ANLN ZIC2 PLG SOX10 BRAF DLC1 ITGB3 FCGR2B ALMS1 NLRP3 ITGA8 PDX1 GANAB KDM6A NARS2 PQBP1 BBIP1 EVC CTLA4 AVPR2 TRNS1 H19 H19 BRCA2 AIRE NDUFS3 SDCCAG8 AKT1 CCND1 PBX1 HLA-DRB1 PGAP3 GPC4 ACP5 ARX CDC73 MAGI2 PEX16 ND1 IFT27 AHI1 OCRL RAB3GAP1 BBS1 TMEM127 TCF4 ARID2 NPHP1 PEX2 PIK3CA FRAS1 PIK3CA RAB3GAP2 CASR ETFDH WDR19 SF3B4 APPL1 FLII ACTN4 C1QA C4A FKRP AGPAT2 IQCB1 USP9X FANCC COLEC11 NIPAL4 WRN MEFV PKHD1 ZNF423 NTNG1 KIF1B TRNT1 PEX13 MMUT UBE2T DACT1 PEX1 DZIP1L ND5 SBDS ADGRG2 ABCG8 B2M RAI1 GATA4 LAGE3 NLRP3 BRCA2 ANOS1 IQSEC2 PKD1 SLC6A19 CYB561 WT1 CASR NUBPL MYLK TCTN3 TMEM216 TMEM231 STXBP1 NPHP4 CC2D2A IRF2BP2 KCNA1 KEAP1 SEC63 WT1 KYNU ERCC4 KCNJ5 OCRL FLNA VIPAS39 SOX4 PAX6 GLI3 CDKL5 SCNN1G SCNN1B FOXF1 INPP5E YAP1 RPGRIP1L POU6F2 CAMKMT NDUFA11 SIX5 SLC4A4 H19-ICR PORCN SLC7A7 TRIM28 CDKL5 GP1BA SI PUF60 GLIS2 GDF6 FIP1L1 NDUFS2 PIGW BMPER TMEM107 MAP3K7 COL5A1 TMEM216 AMMECR1 TBC1D24 COX20 IFT43 COG7 FANCI FAH SEC24C IL2RG CCND1 NUMA1 H19 NRAS FLI1 FGFR1 CA2 PAFAH1B1 CACNA1D NAA10 MKKS SOX11 REST TDGF1 HMGA2 GALNT3 PEX14 CORIN FANCA PRDM16 FOS BBS10 ARL3 GEMIN4 NDUFAF3 PIEZO2 TRIP11 HBB CAV1 STS FANCB RARB TBX15 MMUT ANTXR1 POLR3A BCOR SMAD4 UMOD LCAT EDNRB NOTCH2 SEMA3E ADAMTS13 PRKCSH AMMECR1 FASTKD2 SIX1 NDUFA6 SPP1 ALG8 GCM2 RPGRIP1 ATP7B CEP63 PEX1 KCNE5 ALDOB TRIM28 RPGRIP1L SNAI2 CCN2 FGFR2 TMEM231 GRHPR CPT2 FKTN LEMD3 PTPN22 COX1 COL14A1 ZEB2 WT1 CFTR KCNQ1OT1 C4A COQ7 TMEM237 CLDN19 FANCC EVC2 NDUFB9 LPIN2 RREB1 PDSS2 STK11 HESX1 PLAGL1 APC MYT1 CCDC22 GRHPR SCO1 SLC4A1 GDF3 RET PIGY TRIM32 PRKCD GSN PHYH COX10 TMEM126B DYNC2H1 FLT1 ADA BUB1B KNL1 CPLANE1 IFT43 CDC73 CLCNKB TREX1 PRTN3 COL3A1 FXYD2 FLNA BMPER MBTPS2 APC APC2 MME FOXI1 DYNC2H1 BBS9 WNT5A NDUFA1 NSD1 PEX7 NPHP4 TRNW RPL11 FLNB ND6 ABCC8 WDR35 FANCB TRNV ND4 INF2 GNAS WASHC5 SLC49A4 NDUFAF3 COL4A1 APRT ITPR3 ETFA ARHGDIA TACO1 SEC61A1 HNF1B CLCN5 TBX1 NEUROD1 ACTG2 NADK2 MSH3 GTF2IRD1 RAI1 SALL4 PML CACNA1S IFT140 GATA3 C1QBP NBN MAPKBP1 SPECC1L ADCY10 BMP4 PLCD1 SETD5 HPRT1 TMEM237 F10 MLH1 MUC1 AMER1 KIAA0753 TP53RK MAP3K7 NDUFAF4 HMGA2 HS6ST1 KDM6A CLCN5 FBXL4 ROR2 USP8 PGAP2 WNT4 KANK2 GLIS3 WDR34 CAVIN1 BNC2 GBA CFI SIX1 ZFP57 KCNJ11 FANCE FANCM MAX CASR RNF139 RAF1 NCAPD3 MAGED2 ZNF423 FLNA CFI HNF1B PGM3 AAGAB IL12A CYP11B2 ELP1 VHL FLCN SLC37A4 DZIP1L PIGN NCAPG2 SLC22A12 FH CLCNKB LRP5 CRTAP RBM10 NDUFB11 NDUFAF3 FAT4 IFT172 LRP2 DYNC2H1 TFAP2A INF2 STAT3 PTPN22 TRIP13 AKT1 ALOXE3 SGPL1 DHDDS SDHC TTC37 CTNS WDR35 GP1BB C1QB PDX1 EXT2 NUP107 SPART RRM2B OCLN ENPP1 FANCE COL4A3 PEX5 KCNJ10 PIGL RTTN MYO5B CYP27A1 BAP1 PAX2 PYGM WDR19 SETBP1 DCLRE1C RNU4ATAC FBN1 IL7R CEP290 PIGO COL4A5 PIK3CA NOD2 ADCY10 TMEM260 POR SLC2A9 MITF DYNC2LI1 NSD1 SLC35A2 TRNL1 WDR19 ITGB4 WAS SHH SMC1A NUP133 PGK1 NDUFS8 RET STAT4 GRIA3 IKZF1 HIC1 MYH9 KCNJ10 CACNA1D PCK2 RAD21 PEX19 HABP2 KLHL7 H19 CDC42 UBR1 HNF4A SCO2 ATP1A1 CPLANE1 ROBO2 TRAF3IP1 CDH23 WT1 NR0B1 ELP1 HSPA9 SLC3A1 POR KCTD1 DKC1 NUP133 ND3 IRAK1 GRIP1 MMUT ABCC6 MEFV UQCC2 SON KCNAB2 PTPRJ POLE ATRX B9D2 HOXA13 RBM8A PHF21A ATRX ARID1B CLPB HNF1B WDR34 RIPK4 TP63 HPSE2 NUP160 TRIM37 MBTPS2 STX3 AGPAT2 PORCN COQ2 FRAS1 LZTFL1 FH TGIF1 HMBS PHGDH C8ORF37 SALL1 WDPCP SCNN1B SLC25A11 PRKCD BBS4 COQ2 PIGA TMEM67 YY1AP1 NR5A1 CYP24A1 DICER1 CA2 IFT172 PMM2 NPHP3 GCK TTC21B DSTYK HGD PAH WDR73 GNAO1 ACTG1 NDUFAF5 SALL4 MKS1 NDUFV2 ALOX12B LAMB2 PREPL PAX2 WFS1 PPM1B INSL3 TRNL1 CEP290 HOXD13 COX8A EYA1 ALDH18A1 WDR19 WT1 WNT4 KAT6B PUF60 TCTN2 TRNF TBL1XR1 CLCN5 EP300 COX14 LIPT2 GLI2 ARX SLC1A1 DCC STRADA WT1 SLC6A20 PEX5 PTEN LEMD3 SNRPB C1QC BRCA2 GREB1L NOTCH3 CDKN1C ARVCF MST1 CFH TMEM237 B9D1 AQP2 PIGV TMEM127 SDHA IGF2 SULT2B1 CHST14 JMJD1C TFE3 PGAM2 ND5 FGF17 APC HSD17B4 NF1 CEP55 SDR9C7 TMEM138 SUFU ZIC3 SLITRK6 VDR TTC37 SHPK KIAA0586 TP53RK SMARCA4 NFIA BUB1B PEX2 BCS1L AIP HNF4A MOCS1 BCS1L MNX1 SDHB MEN1 XPNPEP3 CRB2 ERCC4 RMND1 LAGE3 VHL HNF1A FANCD2 NODAL XRCC4 ND1 NPHP1 CCNQ FGFR3 CHD4 PKHD1 ZIC3 KIF14 ITGA2B CTLA4 POMT2 PEX11B SDHD KRAS RAI1 ITGA8 INVS NPM1 SLX4 USP8 DVL3 CCDC141 NPHS1 DDX59 ACTG2 COL1A1 CHRM3 MDM2 IL6 HSPG2 FGFR1 BBS10 ABCC8 RERE MSH6 CCBE1 WDR60 PGM3 CEP135 MKKS BBS5 FANCL CLCNKA COX3 FOXF1 RBM10 IGF2 NUP93 SLC12A1 MASP1 POMT1 CDC73 PHEX INVS HLA-B MAFB COX2 ARX SOX9 DNAJC21 FAS BBS12 FREM2 OSTM1 IFT140 BTNL2 GPC3 SLC34A3 DNA2 TRIM8 PEX3 GDNF ACTB PTEN ZBTB16 GPC4 DICER1 PIK3CA ABCC6 PPARG KITLG SLC9A3R1 BCOR STAT5B NLRP3 SF3B4 COQ6 G6PC3 CSPP1 COL7A1 PHYH NPHP1 EPG5 SETD2 REN LIG4 MKKS POU3F4 STOX1 RFWD3 HYMAI NRIP1 HLA-B RAP1A CDK4 CPT2 GSN PCK1 ATN1 ALX4 FGFR3 SIK1 CEP164 SLC25A20 PIGL STAT4 ABCA12 XYLT2 CCBE1 FLNA AP2S1 PEX3 CFH RET PIGY LZTFL1 STAT1 KISS1R CASP10 RAD21 TRIP13 MYD88 GLA B3GLCT NOTCH2 FAN1 GLMN BSND RAP1B CC2D2A CLDN16 TMCO1 TNXB FGF20 THOC6 ENPP1 GCK ELN SMARCAL1 DNASE1L3 MCM5 FLCN MAX PALB2 MKS1 PKD2 CD46 DIS3L2 MITF TBCK RPL26 LMX1B PTPRO HDAC8 SPRY4 HOGA1 IL23R PIK3CA JAM3 ANOS1 NOTCH2 ND6 COG1 KYNU PROKR2 ADA ATP7A LMNA DLST ZAP70 UFD1 F2 EIF2AK3 STAT3 CC2D2A TMEM67 TGM1 APOE APOE WDPCP GNA11 RYR1 LMNB2 KCNJ10 SERPINH1 SDHAF2 RBM8A SOX9 CASK OFD1 APC PEX13 ESCO2 EHMT1 SASS6 TMEM231 TTC8 DMP1 CD2AP GCM2 TMEM70 TRRAP EYA1 KCNH1 TPRKB FAS DCDC2 TP63 TCTN2 SDHC APOL1 VPS33A LDHA DCC G6PC PRKAR1A THBD CISD2 TTC8 DCHS1 CHRM3 B9D1 AVPR2 RPS19 LRP4 NEK8 TFAP2A ARMC5 SLC12A3 FGFR2 TCTN3 PIK3R2 KMT2A CEL TP53 ARL6 MAP11 PAX1 TMEM216 TRIP13 AKT1 TMEM126B DPH1 SMARCB1 VAC14 TTC21B C8ORF37 TNXB SCARB2 PC DIS3L2 HNF4A NPHS2 NPHP3 WT1 COL4A3 TRNK WDR19 ADAMTSL1 PNKP UBAC2 AKT3 IL17RD RAG2 CTNNB1 NPHP1 CFTR CTNS ASPM AGT SARS2 RECQL4 ERCC8 MMACHC EBP PRKCSH CSPP1 FLCN STXBP1 TBC1D24 TMEM67 NIPBL CDON LYZ CDKN1C RASGRP1 FLRT3 CEP290 CENPJ BICC1 NSDHL DHCR7 TMEM231 NUP85 CTNNB1 CLCNKB WNT4 RPGRIP1L PEX19 ALG8 FGFR3 SOX10 FN1 DISP1 COX6B1 LMOD1 TPRKB TBC1D8B NOD2 CTH MFSD2A FANCF TBX18 ND2 KLF11 TAF13 SURF1 OPLAH IFIH1 WNT4 CILK1 MLXIPL BRAF CLIP2 DHCR24 POU6F2 SERPINA1 FLCN LARGE1 SH2B1 AGXT CDK5RAP2 CEP290 SHANK3 REST PGK1 NDUFS2 SDCCAG8 PRSS1 MSH2 SRP54 IFT172 TBL2 ALMS1 DNASE1 PLEC DMRT3 KRAS SLC17A5 NPHP3 CSPP1 IL12A-AS1 NABP1 TSC1 FH FANCG MEOX1 TCN2 DSTYK SFTPC PDE6D SLC29A3 B4GAT1 COMT CD151 SLC26A1 CLEC7A MCPH1 SKI WWOX HPRT1 GPC3 SRCAP WDR62 SLC7A7 IFT122 TBX22 APRT CLCN5 SPECC1L FLCN TRNH PEX10 ARID1A PIEZO2 PHC1 NUP107 CASR GP1BB CHN1 MAFB TRNL1 SOX17 BBS1 CPT1A KMT2A RAD51 FREM1 NDUFS1 GABRD FREM1 GP1BB SKIV2L WDR11 OSGEP MRPS22 DIS3L2 KIAA0753 NDUFS4 TRPC6 CD96 SC5D SDCCAG8 FANCB PAX4 SLC26A4 VHL NSMF NEK1 TRNS1 NPHP1 CAD OFD1 XRCC2 FOXC2 PEX10 FIG4 PCSK9 FBLN5 INTU GNA11 ANKS6 NIPBL WT1 COL4A1 IFT80 KCNJ1 HAAO VHL NDUFS6 HPRT1 HNRNPU ATP6V0A4 LMX1B CIT CDC73 TRNW PRCC YWHAE CDKN1B KYNU C1QA GDF6 TIMMDC1 TSC2 KLRC4 KIF1B DICER1 FOXRED1 ADAMTS3 PLG USP9X GLI3 RBBP8 WT1 POGZ WNT3 RSPO2 IFT80 CEP290 FANCB TMEM216 SMARCE1 FASLG PAX2 CREBBP SLC7A9 NDUFAF2 CTRC LTBP4 XYLT1 SPINK1 C3 PRDX1 WDR73 ERCC6 FGFR1 ANTXR1 TMEM67 DPF2 BAZ1B EHMT1 COA8 BSCL2 SLC34A1 INS KIF7 PROK2 NUP133 ABCC8 SMS NXN RERE IQCB1 DACT1 DLL4 ATRX CPT1A FGFR2 AQP2 IL17RC PIGQ ATP6V1B1 TMEM107 SMC3 FN1 CC2D2A CFB PTPN11 ARNT2 CPT2 ITGA2 RARA EP300 HELLPAR PMM2 PEX7 GNB1 MECP2 FOXG1 C3 IFNG MDH2 PIGP PRODH TRNK IRF5 ENG CTNS TALDO1 NPHP3 SLC4A1 ALDOB JAG1 DEAF1 NEUROD2 MAFB TSC1 EIF2AK3 H19 IGF2 OFD1 KCNQ1 ACE LMX1B GNB1 TRIM32 ANKLE2 PTCH1 PEX26 BUB3 COL25A1 AMMECR1 NAA10 SLC34A1 TRAF3IP2 TCTN3 WFS1 TRAF3IP1 LIG4 CEP120 ZNF148 SRY FEZF1 PREPL DNASE1L3 FAM149B1 FLNA HMOX1 SETBP1 MOCOS CEP164 FOXH1 MBTPS2 RAB18 HNF4A PIGN H19 HOGA1 CCND2 BBS12 TMEM138 ABCG5 CFHR1 GDF2 TSC2 KCNJ11 SOX18 NUP107 DHODH FUZ RAG1 TREX1 ERBB3 LMNA LMNB2 PEX1 SRC ARL6 PIGT FOXP3 ITGA6 PPP1R15B HDAC4 INPP5E SLC5A2 CHD7 PDGFRB ARL6IP6 CEP120 NSUN2 TRNS2 TMEM67 MED25 SLC34A1 TBX3 NELFA NPHS1 CAV1 HPS1 FOXE1 LIMK1 FGFR2 CCDC28B CFHR3 BBIP1 SC5D PTCH1 FAS PEX12 DHCR7 AGXT TMEM231 ND1 TLR4 PIGN PROKR2 SLC12A3 CD109 NRAS TBX1 CDKN1B CHD7 AGTR1 FGF8 SNRPB WNT3 FGFR2 MGME1 KLLN SLC3A1 PEX6 PPP3CA KIF14 SEC23B GPC3 CD46 ADA2 HRAS SEMA3E PRPS1 SALL1 CHD7 BRIP1 FANCL BBS4 COL4A3 SDHB CEP152 CIT CEP57 TBX1 PLCD1 CPT2 LEMD3 PIK3R2 MOCS2 IARS1 ABCC6
Renal insufficiency
Genes 445
DZIP1L CLPB HNF1B TMEM67 NUP160 AGPAT2 LZTFL1 LAGE3 PLCE1 SDCCAG8 HMBS PKD1 SALL1 RASGRP1 WT1 SCNN1B CEP290 BICC1 PRKCD NUP85 TMEM231 NPHP4 CLCNKB RPGRIP1L KYNU IFT172 ERCC4 NPHP3 REN OCRL TTC21B FN1 HSD11B2 WDR73 TPRKB WDR19 PAX6 TBC1D8B SPRY2 FANCF PNPLA6 ALOX12B LAMB2 TBX18 SCNN1G PAX2 SCNN1B NPHP4 TRNL1 TMEM67 CFH SIX5 MYO1E WT1 MLXIPL CFHR5 CLIP2 GLIS2 TRNF CLCN5 SH2B1 AGXT CEP290 PGK1 LHX1 HLA-DPB1 WT1 IFT172 IL10 LEMD3 TMEM216 TBL2 AMMECR1 ALMS1 NPHP3 WDR73 IL12A-AS1 FAH MST1 CFH TMEM237 FANCG CCND1 TCN2 DSTYK HPRT1 IFT27 SULT2B1 NUP205 COQ8B PGAM2 ND5 CD151 SDR9C7 SLC26A1 HPRT1 SLC7A7 GTF2I IFT122 APRT SHPK CLCN5 KIAA0586 RPGRIP1L TRNH CORIN NUP107 FOS MAFB CYP4F22 TRNL1 HBB MEN1 CCR6 CAV1 STS XPNPEP3 ERCC4 FANCB KMT2A RAD51 RMND1 C1R MMUT OCRL FANCD2 TRNE OSGEP UMOD LCAT TRPC6 NPHP1 CCNQ CHD4 SDCCAG8 CRB2 PKHD1 BRCA1 SIX1 SPP1 TRNS1 WT1 NEK8 INVS KCTD1 XRCC2 KCNE5 LRIG2 GATA3 ANKS6 CCN2 NIPBL TMEM231 GRHPR CPT2 COL4A1 PTPN22 COX1 BBS10 SAA1 HPRT1 CLDN10 WDR60 LMX1B TMEM237 CLDN19 FANCL CLCNKA TRNW COX3 NUP93 C1QA CDC73 INVS KLRC4 ITGA3 CFI RAD51C HLA-B DNAJB11 DGKE COX2 GRHPR FAS IFT140 GSN BTNL2 IFT80 DYNC2H1 GLA FLT1 FASLG PAX2 IFT43 CDC73 SLC7A9 TTC21B PRTN3 ABCC6 PPARG XYLT1 FXYD2 RAD51C NLRP3 C3 MME PRDX1 COL7A1 PHYH NPHP1 ERCC6 TMEM67 CCR1 BAZ1B NPHP4 SLC34A1 NUP133 ND4 STOX1 RFWD3 INF2 FAM20A RFC2 FAM20A IQCB1 DACT1 COL4A1 TRNT APRT ARHGDIA HLA-B SEC61A1 CPT2 GSN HNF1B AQP2 TRNQ CLCN5 GTF2IRD1 STAT4 MEFV ABCA12 SCARB2 SMC3 FANCI FN1 CC2D2A RPGRIP1L CACNA1S CFB IFT140 GATA3 XYLT2 BSCL2 VANGL1 MAPKBP1 CPT2 MAD2L2 AP2S1 HELLPAR PEX7 SLC3A1 C3 CFH SETD5 TRNK IRF5 UMOD GPR35 FANCA CTNS MUC1 COL4A4 HLA-DPA1 TP53RK SLX4 CASP10 ALDOB MYD88 GLA NOTCH2 CEP290 JAG1 FAN1 CLCN5 TSC1 BSND CC2D2A SIX5 EIF2AK3 SCNN1A CEP83 CLDN16 ELN SMARCAL1 WDR34 CAVIN1 LMX1B BNC2 LAMB2 PALB2 CFI PKD2 AMMECR1 CD46 FANCE ZNF592 FANCM TMEM67 NPHP1 HLA-DRB1 ZNF423 CFI LMX1B TRAF3IP1 HNF1B CEP120 LPIN1 HDAC8 ELN IL12A IL23R LRIG2 DNASE1L3 ND6 SLC37A4 DZIP1L LIPN COG1 ACSL4 SLC22A12 MOCOS CEP164 HNF4A EIF2AK3 TMEM138 CC2D2A CFHR1 TMEM67 SOX18 TGM1 APOE PTPN22 UMOD ALOXE3 SGPL1 RYR1 DHDDS SLC30A9 FUZ CTNS WDR35 NPHP3 HPSE2 TSC2 NUP107 OFD1 OCLN EHMT1 ERAP1 COL4A3 INPP5E CD2AP ANLN PAX2 GCM2 PYGM WDR19 EYA1 FAS DCDC2 TRNS2 CEP290 COL4A5 NOD2 APOL1 LDHA NPHS1 TMEM260 THBD CAV1 ALMS1 HPS1 CHRM3 LIMK1 CTLA4 DYNC2LI1 CFHR3 AVPR2 BBIP1 BRCA2 FAS WDR19 SMC1A AGXT PGK1 PBX1 HLA-DRB1 TLR4 STAT4 IKZF1 MYH9 TMEM126B RAD21 CDC73 MAGI2 ND1 TTC21B AHI1 OCRL TRAF3IP1 NPHS2 NPHP3 WT1 COL4A3 TCF4 ELP1 NPHP1 WDR19 CD46 UBAC2 WDR19 ACTN4 C4A HRAS PRPS1 IRAK1 IQCB1 MMUT NPHP1 FANCC SALL1 NIPAL4 BRIP1 MEFV PKHD1 MEFV SARS2 ERCC8 MMACHC CPT2 CSPP1 MMUT UBE2T HOXA13
Chronic hepatitis
Genes 11
ALMS1 KRT8 IL21R AIRE RFXAP C4B RFXANK CD40LG KRT18 RFX5 CIITA