SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs2281135

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression

Non-alcoholic fatty liver disease (NAFLD) is a common disorder, affecting ~30% of people in the general population and up to 96% of obese individuals. Variations in several genes have been found to be associated with fatty liver, but these associations only explain a small percentage of the risk, and further studies are needed. In many cases NAFLD does not cause serious side effects, but in some individuals it progresses to scarring or hardening of the liver, liver failure, and cancer. The purpose of this research study is to determine if individuals who carry certain genetic variations in a gene related to bile and choline metabolism have an increased risk of fatty liver progressing to fibrosis, or scarring of the liver. This study will also use a new, non-invasive method called the FibroScan® to measure liver fat and liver stiffness. The FibroScan® device is FDA approved for use to measure liver stiffness, but not for the liver fat measurement. However, the FibroScan® instrument is considered a non-significant risk device. Since its induction in Europe and worldwide in 2003, there have been no adverse effects reported with this device.

NCT02267148
Conditions
  1. Non-alcoholic Fatty Liver Disease
MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis

As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135.

Primary Outcomes

Description: Measured by FibroScan® instrument

Measure: Liver stiffness measurement via transient elastography

Time: Study Day 1

Description: Measured using FibroScan® instrument

Measure: Liver fat measurement via Controlled Attenuation Parameter

Time: Study Day 1

Secondary Outcomes

Description: This is a calculated score which is a good predictor of liver disease

Measure: NAFLD-Fibrosis score

Time: Study Day 1

2 Genetical Background of Non-alcoholic Fatty Liver Disease (NAFLD) in Diabetes Mellitus and in Chronic Kidney Disease

The present study investigates relationship between non-alcoholic fatty liver disease and its risk factors, such as genetic background and diseases, such as chronic kidney disease and diabetes mellitus.

NCT02947568
Conditions
  1. Non-alcoholic Fatty Liver Disease
  2. Chronic Kidney Disease
  3. Diabetes Mellitus
Interventions
  1. Other: non-interventional study
MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Kidney Diseases Renal Insufficiency, Chronic Diabetes Mellitus
HPO:Abnormality of the kidney Abnormality of the liver Chronic kidney disease Decreased liver function Diabetes mellitus Elevated hepatic transaminase Hepatic steatosis Nephropathy

In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.

Primary Outcomes

Description: The association of hepatic steatosis with chronic kidney disease, diabetes mellitus and the the persence of these two will be assessed

Measure: Association of NFS (NAFLD fibrosis score) and HSI (hepatic steatosis index) with underlying conditions

Time: 2 years

Description: The association of hepatic steatosis with genetic factors will be assessed. In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined

Measure: Association of genetical factors with NFS and HSI

Time: 2 years

Secondary Outcomes

Description: The association of serum creatinine, eGFR, blood urea nitrogen, serum sodium, serum potassium, serum calcium with NFS and HSI will be assessed

Measure: Association of hepatic steatosis with renal function

Time: 2 years

Description: Association of HbA1C, fructosamine, blood glucose, serum insulin, HOMAIR, serum uric acid with NFS and HSI

Measure: Association of glucose metabolism parameters with hepaic steatosis indices

Time: 2 years

Description: Association of serum bilirubine, serum GOT, serum GPT, serum GGT, serum ALP, serum LDH, INR, serum total protein, serum albumin with NFS and HSI

Measure: Association of liver function and hepatic setatosis indices

Time: 2 years

Description: Association of serum total cholesterol, serum HDL-cholesterol, serum LDL-cholesterol, serum triglyceride, serum carnitine with NFS and HSI

Measure: Association of serum lipid profile and hepatic setatosis indices

Time: 2 years

Description: association of serum iron, serum transferrine, serum transferrine saturation, serum ferritine with NFS and HSI

Measure: Association of iron metabolism parameters with hepatic setatosis indices

Time: 2 years

Description: Association of blood count, erythrocyte sedimentation rate, CRP with NFS and HSI

Measure: The relationship between blood count, sedimentation and inflammation with hepatic setatosis indices

Time: 2 years

Description: association of urinary total protein, urinary albumin, urinary total protein/creatinine ratio, urinary albumin/creatinine ratio with NFS and HSI

Measure: Assotion of serum proteins with hepatic setatosis indices

Time: 2 years

Description: Association of serum meta-Tyr, serum ortho-Tyr, urinary meta-Tyr, urinary ortho-Tyr, urinary meta-Tyr/creatinine ratio, urinary ortho-Tyr/creatinine ratio with NFS and HSI

Measure: Association of pathological tyrosine isoforms with hepatic setatosis indices

Time: 2 years


HPO Nodes


HP:0001392: Abnormality of the liver
Genes 1396
SNX10 RNASEH2A ND4 GALE MMUT PEX5 NDUFS6 LPIN2 GUCY2D RNASEH2C AXIN1 COG4 GNPTAB LIMK1 HLA-DRB1 LIPA SPTB LBR CD247 PDGFRA RHBDF2 SOS2 HBB ABCD3 COX15 TSHR GP1BB ASS1 IRAK4 FANCI SLC30A10 CLEC7A IL2RG EXTL3 SLC25A19 NSD2 SEC24C ZIC3 DAXX POMC NELFA NPHP3 NPC1 TNFSF15 PIGA APOE HJV COG2 TNFRSF1A DHFR PEX11B PEX11B RINT1 BLK ABCG8 ABCG8 LZTR1 NSD2 TRAF3IP1 UNC13D GPC1 GANAB KCNH1 RNU4ATAC TTC21B INPPL1 PIEZO1 GPR35 TMEM67 JAK2 MET PEX10 EIF2AK3 PRF1 GPI RAD51 ERCC4 MYC CTLA4 LBR FCGR2A PRKCD LYST BTD IL21R NEUROD1 MLH3 BMPER GCDH NSD1 GLB1 LTBP3 ATP8B1 UQCRB CYBA LMNA FANCL ERCC6 SF3B1 NDUFA1 PRPS1 CAVIN1 TERC AGL MECP2 TCF4 NAGLU GUSB DLD NAGA PET100 RNU4ATAC PTPN11 IL12RB1 NEK1 PDX1 UGT1A1 PKLR TMEM67 HBA1 LZTFL1 NRAS BCS1L PLPBP MAN2B1 ARSA HJV TREX1 FBP1 SPTA1 HGSNAT SLC2A1 RASGRP1 LYST TKT IDUA XIAP TSFM DNAJC21 WDR19 BICC1 HNF1A LETM1 TTC8 GBA NCF1 WDPCP MCM4 CD70 SOS1 IL2RB PEX19 WRAP53 PIGM ACADM POU1F1 TMEM70 PEX3 UQCRFS1 PEX1 TNFRSF13C PEX13 G6PD AP1B1 HNF4A SBDS ABCC2 RERE CD40LG ICOS PDGFRB UGT1A1 FANCM FASLG DMPK MPV17 FOXP3 MEFV PEX19 COX14 HBA2 TGFBR2 CIITA UBR1 NR1H4 IARS1 PIEZO1 CYTB ENG PLEKHM1 ATAD3A STAT6 FLT1 NEU1 HBB IDUA MSH6 LMNA CAV1 MRPL44 NOP10 PSAP JAG1 TACO1 GBE1 MET GNPTAB MYBPC3 FANCG HYOU1 APC GALM MKS1 POLG BBS2 LACC1 DNAJB11 ACOX1 DYNC2H1 H19-ICR KCNN4 KIF20A NDUFS7 ARHGAP31 MTRR PEX2 RFT1 IL7R RAF1 GPD1 CYP27A1 ETFA HPD PTPN3 ALG8 MST1 PIK3CA TRNV ADAMTSL2 PEX14 TMEM165 TCIRG1 NDUFA6 HNF1A VCP RNASEH2C SP110 RBM8A TIMMDC1 HFE CIDEC BCS1L SDHD CLDN1 CD55 TET2 TTC37 LPL CLDN1 PEPD SC5D MAGT1 RFX5 OFD1 PALB2 PSMB4 SKIV2L SON HMBS TRNW FGFR2 APOB AP3D1 PEX6 MMEL1 IGF2R RRM2B TNFRSF1B REST SC5D CTCF RAC2 CTLA4 TRHR EFL1 CIITA SLC25A13 AP3B1 GPC3 B9D2 KCNQ1 PEX16 AGA PKHD1 NEUROG3 ZAP70 NDUFB11 BBS10 DUOXA2 FOXP3 HNF1B POMC COG5 VIPAS39 PCSK9 SPIB TRMU FANCB ANKS6 XK OSTM1 KRAS HEXB SEC63 SCNN1G POLG INS ACADVL DCTN4 CDKN1C DKC1 TNFRSF13B TBX19 HAVCR2 DGUOK TSHB EPB42 ATP7B BOLA3 PLIN1 LDLRAP1 PRKCD SLC25A4 C1S APC DHCR7 KRAS SFTPC SLC22A5 HSD17B4 LYZ ANK1 VPS33B CASR WDR35 STK11 MAN2B1 CTNNB1 DDRGK1 SPINK1 IL2RG SPTB HFE DYNC2H1 TMEM216 TREX1 CYP27A1 CBS IFT122 ACAT1 NDUFB3 HOXD13 COA3 CD96 WT1 STAT1 MUC5B MRPS7 BBIP1 SMAD4 SLC4A1 HBG1 ABCG8 MED25 CHD7 PEX10 TERT MVK COG1 COG4 HAMP IFT27 LMNA GBA RREB1 CDAN1 NDUFS7 IDUA RAD51C CTSK DLL4 KLF1 SEC23B FUCA1 PDGFRA TBX1 CEP164 FLNC DPAGT1 JAK2 ALG1 NCF4 DYNC2I2 TPI1 RFXAP PEX12 GPIHBP1 GDF2 CASP8 MFN2 PTRH2 MAN2B1 COX20 PEX26 MMUT LRPPRC TRAF3IP2 PEX3 CEP290 RELA FANCD2 PYGL CR2 APPL1 VPS45 RMND1 GALNS RRM2B TRIM32 APC KRT8 RFC2 ABHD5 CTLA4 NCF1 CD3D STEAP3 PMM2 HNF1B IFT172 SMAD4 CLCN7 ND1 SGSH SERPINA1 HBG2 TFAM CDKN2A IL18BP PTRH2 NDUFS3 TRNS1 SPTB CTSA NDUFAF2 IL17F WDPCP TMEM67 LRRC8A CPT2 NAGS BRIP1 FLI1 CLCN7 XRCC4 IGLL1 MPV17 PEX19 PRKCD PEX12 SLC7A7 NCKAP1L ABHD5 HNF1A HLA-DRB1 SLCO2A1 FAH XIAP CEP83 DKC1 TMEM67 PEX14 NDUFAF4 CYBB CD3E EPCAM VHL DGUOK TTC7A BMP2 TNNI3 EOGT ABCB4 PHKA2 CBL NEU1 MYD88 NPM1 ACADL SLC20A2 SMAD4 MMAB POLG2 MTTP RRAS PSAP TMEM216 CASK ACAD9 PTEN CEP290 CPT1A ADA AIRE PHKG2 POLG2 GAA FANCC CARS2 IFIH1 COA8 PSAP TERT DHCR7 PEX1 PEX12 FBP1 SLCO1B1 UBE2T TSC2 ARSB COG6 RASA2 RHAG APOE CC2D2A EPB42 COX10 CPT2 TTC7A INSR BTK LMNA SKI APOA1 GPC3 RPS20 PLAGL1 PALLD NDUFS1 RUNX1 LYRM4 INTU WT1 DYNC2LI1 MKS1 COMT HYMAI NLRP3 PRKCSH TP53 ASAH1 SBDS ACVRL1 MVK MPL PAX8 LRP5 CLCN7 BBS1 RIPK1 PCSK1 STXBP2 NFKB2 KCNQ1OT1 NDUFAF8 PEX2 DCDC2 SLC25A15 ATP11C HADHA PHKA2 CPOX POU2AF1 IL1RN PSAP CCDC28B PEX12 SNX10 RHAG TGFB1 ABCC8 PEX6 HADH FOXF1 TNFRSF13B TRAPPC11 ALDH7A1 PHKG2 GDF2 CLCN7 SP110 HBG2 CC2D2A NDUFAF5 APC2 HAMP FANCA TNFRSF1B CTNS ARSA PMM2 COX15 UGT1A1 PPOX NLRP1 EARS2 PKHD1 CEP290 ACP5 IL12A KRT18 TRIM37 PEX26 EPB41 PEX6 SLC4A1 TRNW HFE IFT140 HNRNPA2B1 ABCA1 DDRGK1 TREX1 RPGRIP1L TRNK EPB41 ATP7A MSH6 INPP5E TALDO1 CYP7B1 FECH SRP54 TINF2 ATP6AP1 SHPK ATP7B PC CPOX ARL6 IDUA BCS1L RMRP NDUFAF1 PEX6 DUOX2 FGFR2 BSCL2 PSTPIP1 SCNN1B TRIM28 AKR1D1 DOCK6 AP1B1 USB1 IGF2 H19-ICR COX4I2 HIRA TNFSF12 PIK3R1 AKR1D1 PHKB IER3IP1 JAM2 F5 TTC21B TFR2 LIG4 IL7R ABCG5 NHLRC2 CTNNB1 SLC25A13 ALDOB RMRP ACADVL CDKN1B LIPA IFNGR1 SDHB PPARG ENG HLA-DRB1 IQCB1 CASP10 GLIS3 CA2 PSAP PEX11B NOTCH2 DPM2 CD81 ACADM SDCCAG8 PRKAR1A FECH DLL4 COX10 ERCC8 USP18 SLCO1B1 PPARG SDHC GBA LIG4 HADHA ALG13 TYMP KMT2E TMEM199 HMGCS2 KCNJ11 MLXIPL ADK NOTCH2 BLVRA SLC37A4 BBS12 PEX5 DYNC2I1 CPLX1 NPHP1 PCK2 ABCC8 NPHP3 LRP5 CYBB KRT18 WDR35 ERCC8 DYNC2I2 KRAS NKX2-5 SLX4 TUFM PEX13 PKD1 XRCC4 TRIP13 GPC3 RPGRIP1L WDR19 JAM3 BBS7 ELN CFTR CEL DIS3L2 SLC29A3 SLC44A1 KLF1 PKD2 NPHP3 TRNL1 IL17RA JMJD1C IARS1 VPS33A UFD1 FADD TNFSF11 DIS3L2 AGA TSHR RAG1 BRCA2 SLC25A20 EIF2AK3 APC GTF2I ABCB11 CNOT1 MCCC1 ALG9 FAN1 KIF3B NDUFA11 APOE G6PC SLC26A4 RAB27A MSH2 TG CYP7B1 EWSR1 ATP6 SPRTN WDR19 TNFSF11 HK1 IGHM LMNA ERCC4 MOGS HNF4A TBX1 CD79A CFTR TMEM67 LHX3 INPP5E MYORG PEX2 ITK MPI CALR NPHP3 MMAA SLC40A1 VPS33A SLC5A5 SCO1 RPGRIP1L BBS9 APC SPECC1L PEX2 TTC37 TET2 BTK SETBP1 SCNN1A IL7R ASL GFM1 CFTR AP1S1 HBB PSMB8 TINF2 CD28 DHDDS FANCE LMNB2 ANTXR1 GPC4 CD19 ND6 CP ARL6 KIT RFX6 CPT1A ALMS1 INVS B3GLCT TRNE CPOX ITCH MPI PEX26 NSMCE2 RBCK1 TWNK IDUA APOC2 NDUFAF3 NDUFS4 SAA1 HBA2 BCHE NPHP1 AP1S1 NBAS ABCB11 SERPINA1 FH RAG2 TMEM107 MRAS CASR PNPLA6 DPM1 IFIH1 ZAP70 ND3 SCYL1 MYRF GNAS GYPC ND1 BRCA2 RFXANK TARS2 DYNC2LI1 ABCB4 LETM1 GBA HBB GATA6 TMEM126B GBA BRCA1 PSMB9 NDUFAF1 PEX3 ATPAF2 ATP7A F5 TSC1 PCCB FAS NHP2 SLC13A5 GALK1 COX6B1 ALDOA ETFDH G6PC3 MS4A1 HBB CD19 TCIRG1 EXTL3 HNF4A GUSB LBR GNE NGLY1 SLC25A19 PCCA RRAS2 DDOST KIT PEX1 NPHP4 RAG1 ALMS1 PDGFB LIPA TRAPPC11 C4B TRAF3IP1 UGT1A1 SPTA1 ASAH1 PEX12 MPL OCLN KRAS ADAMTS13 DCDC2 LMNA MIF SUMF1 CYBC1 ABCA1 POU1F1 SLC11A2 BBS5 FAH STX11 JAK3 PEX6 TMEM67 SPTB SLC2A1 POLR3A IRF5 CA2 MKKS LIPE RAG2 NAB2 ABCB4 HMGCL BTK ERCC6 RNASEH2B ANK1 NEU1 BTNL2 NOP10 ALAS2 CSPP1 CPT2 ND2 CBS PEPD TERT MARS1 SDCCAG8 TCF3 ERCC8 ICOS PRSS2 KCNN4 GCLC ACVRL1 NUBPL LIPE SAMHD1 SLC40A1 TGFB1 STN1 IGF2 KPTN ADA AUH TPP2 CCDC47 KLF11 FARSB UCP2 GPC4 IL36RN PKD1 PEX14 TNFSF12 RPGRIP1 SURF1 C1QBP RASGRP1 PEX16 CLPB HPGD ATP6AP2 FERMT3 SDHA RBPJ ND3 DCLRE1C PEX1 TRMT5 TRMU MLH1 GLB1 LCAT AGPAT2 BTNL2 TRNN GNMT B2M MRPL3 PSAP TNNT2 DNAJC21 FOS HSD3B7 COG7 CAV1 PCCA SLCO1B3 IFT80 CTSC USP9X SFTPA2 AKT2 ABCA1 CYP7A1 SDHA TNFRSF13C JAK1 HMBS SLC4A1 CAVIN1 GANAB SCARB2 GBA PARS2 RNF43 BSCL2 TCIRG1 KCNN3 SETD2 NDUFV1 PNPLA2 CYP19A1 ATP6V1B2 HMOX1 PKLR C11ORF95 IFT172 IFT140 TJP2 BMPR1A ARVCF NFKB1 PMS1 PEX16 ALDOB CLIP2 C8ORF37 MSH2 PYGL MKS1 RHAG PIGS FANCF KCNJ11 JAK2 ATRX CIDEC RECQL4 NCF2 PRKCSH CD28 LARS1 CASR BAZ1B FUCA1 HNRNPA1 CPA1 SLC25A20 NDUFS2 KRIT1 ADAR WHCR LHX4 ATP8B1 ATP8B1 JAK2 SLC25A1 FASLG HBA1 PEX26 WDR19 GATA2 ETFB IL6 STOX1 ICOS ARSA TMEM231 LDLR XRCC2 DNASE1L3 TET2 CLCA4 STX1A AGGF1 HESX1 MRPS28 ARG1 PLEKHM1 POU6F2 SLC39A8 IFT172 TKFC TALDO1 IL17RC SAR1B ASXL1 TRIM28 TCTN2 CD79B NHP2 AMACR ALG2 FBN1 SLC25A13 INSR NRAS NPC2 GALT POLD1 PKD2 BLNK CORIN RAG2 NDUFS8 PFKM NLRP3 FOXRED1 AHCY CEP290 SLC22A5 DOLK SMPD1 IFT80 HADHB SLC4A1 STEAP3 PARN PAX4 NDUFB10 PEX13 NDUFS4 PRSS1 TP53 PIK3C2A COX8A NAGA HBB GABRD GBA DNAJC19 APC BRCA1 KCNAB2 SNX14 ACOX1 NOTCH1 H19 TRIM37 AMACR UROD ABCC2 ND5 NCF2 CR2 TNPO3 SRP54 SCYL1 RFXANK PEX16 IL2RA POLG2 IL2RG HADH ERCC6 CYBC1 SMPD1 FGA HSD3B7 SLC30A10 CC2D2A TREX1 WDR35 SLC25A13 PRKAR1A TMPRSS6 SRSF2 NPHP3 RIT1 SH2D1A PEX3 GATA6 GLRX5 PIK3CA CCDC115 PROP1 HNF4A CTC1 GNE FAS ACAD9 RNASEH2A CD27 DYNC2I1 NDUFV2 TBX1 RFX5 DCLRE1C BSCL2 MPC1 BBS1 PALB2 GTF2IRD1 PEX14 SLC25A15 FADD APOA1 IYD AKT2 COG6 TERC CBL SLC39A4 AGPAT2 NOD2 SLC29A3 ADA2 PLIN1 BCS1L GBA CC2D2A BSCL2 IFT43 SOX10 ESCO2 SPOP SEMA4A PEX1 SLC37A4 RPGRIP1L VPS13A NGLY1 TF CYBA MAD2L2 NHP2 FAS SEC63 COG8 FDX2 TNFRSF11A CDIN1 SLCO1B3 RFWD3 DZIP1L CCND1 ERCC8 PEX19 XPR1 FAM111B RTEL1 PEX3 CTRC PEX5 TPO KRT8 TERC MYPN CTBP1 MLH1 IFNG ITCH YARS2 PNPLA2 BRCA2 ERCC4 TGFB1 BBS4 FGFRL1 RFXAP SUMF1 ERCC1 GCGR RAG1 SMPD1 ND2 POLG TBX19 UROS ALG8 ELN HADHA PCCB CEP19 A2ML1 SETBP1 TET2 BPGM PEX10 PAX8 MMUT MVK TERT PTPRC SLC17A5 NEK8 CEP120 ALG9 ARSA TBL2 ERCC6 STK11 SLC7A7 NDUFB9 LONP1 RFT1 WT1 ERBB3 SKIV2L PDGFRL CEP55 KCNH1 CPT2 DMPK PEX10 UGT1A1 PEX5 XYLT1 DLD NSMCE2 HMGCL GLB1 PMS2 COA8 PCK1 DNAJC19 B9D1 PGM1 GALT PPARG CASP10 PRDM16 IDS RNU4ATAC EFL1 GCK GNS GBA
HP:0000077: Abnormality of the kidney
Genes 1793
SMARCA4 H19 RPS19 WT1 ND4 MMUT EDNRB NDUFS6 LPIN2 PGM3 FXYD2 FANCB PGAM2 NTRK1 KCTD1 GP1BB HS6ST1 FANCC RET SEC61A1 SLC6A20 SEC24C PAH NELFA CHN1 APOE PEX11B BLK FGF20 ABCG8 CCDC141 HGD FBXL4 TRIP13 PTH1R SOX10 FEZF1 KCNH1 RNU4ATAC TTC21B CDH23 MCC FOXC2 NF1 EIF2AK3 C1QB RAD51 ERCC4 NPHP1 NSD1 TSC2 SPINK5 FANCL NDUFA1 STX3 EVC RET CFTR PPP2R1A PLCD1 APRT XYLT2 SDHB NEK1 FLNB COQ2 TMEM67 BRAF FBLN5 LZTFL1 ACP5 PAX7 MAP2K1 PUF60 COL4A5 TP63 SEMA3E RASGRP1 TKT SIX1 TTR H19 SPOP DNAJC21 LETM1 COL4A1 WDPCP SFTPC ACTG2 FAM149B1 PEX19 ADCY10 BBS12 GLI3 RPL26 HNF4A RERE NEK8 EYA1 KLLN FANCM WT1 FOXP3 MEFV MYCN UBR1 OSGEP IARS1 PDGFRL FAM20A FLT1 INVS TMEM231 SLC3A1 CPLANE1 HIC1 IFNG SURF1 HLA-DRB1 JAG1 TACO1 ZFP57 VANGL1 GBE1 SALL4 FANCG RAD51C KCNJ10 ATN1 MKS1 DNAJB11 ND5 RPS19 CASK DYNC2H1 H19-ICR F8 C1QC ATP6V0A4 ETFA MUC1 MITF ALG8 INSL3 MST1 PRDX1 TOR1A ADGRG2 TRNV PDGFRB RAB23 HPSE2 FAT4 NDUFA6 CIT PRODH WT1 ALDH18A1 PIGQ RAF1 NPHP4 STAT2 SKIV2L SON KCNJ5 HAAO BUB1B TRIP11 ERAP1 ADAMTSL1 SMC1A ZNF148 NPHS2 TMEM231 ARX PRTN3 PIGN TRNF PKHD1 TDGF1 NDUFB11 B4GAT1 VIPAS39 DYRK1A FLCN CYP24A1 ANKS6 TMEM231 ACE CTH PIGQ TSR2 IL12A CDKN1A IRF5 ERBB3 ROR2 RIPK4 FANCB ZEB2 BBIP1 NUP107 LDLRAP1 PRKCD NCAPD3 PEX7 HSD17B4 BUB3 VPS33B CASR WDR35 LIG4 GNAS PAX2 SDCCAG8 GNA11 FAN1 TMEM127 HPSE2 DYNC2H1 TREX1 LCAT MET COA3 WT1 CD96 SDHAF2 WT1 STAT1 TNXB TMEM237 BBIP1 GATM PTPRJ HPRT1 CHD7 LMNA GBA SDR9C7 PQBP1 NDUFS7 TRNL1 CIT SLC5A2 ABCC6 SLC9A3R1 OFD1 IQCB1 SETD5 GDF2 PLG AGXT TP53 LAMC2 MAGI2 BICC1 MMUT TRAF3IP2 GP9 CEP290 FANCD2 PYGL PIK3R2 APPL1 HOXA13 PPM1B PIGV TRNQ TRIM32 RFC2 ALG1 HPS1 SPECC1L PMM2 SERPINA1 WAS SOX9 WT1 TRNS1 APOL1 SEMA3E IL17F HOGA1 SHANK3 SLC35A2 DDX59 TMEM260 NUP160 PYCR2 TAPT1 DSTYK TMEM127 APC SLC7A7 INS CC2D2A FREM2 FAM20C CENPF BUB1 CEP83 DKC1 NDUFAF4 NFIA PGK1 RAD54B AFF4 VHL CLDN10 SRC SLC25A11 RARA PAFAH1B1 MEFV ND1 ITGA8 GLMN MYD88 PTEN FGF10 TP53 SMAD4 WDR19 TMEM216 CEP290 GATA4 WAC AIRE ITGA6 STRA6 NDUFB8 PLCE1 FGFR2 FGF17 FANCC WFS1 IFIH1 COA8 DHCR7 PTCH1 CDC73 LAMB2 CLCNKB ZNF423 RNF139 H19-ICR PROK2 CLCNKB RPL27 CC2D2A SCNN1B AVPR2 COX10 MGME1 GPC3 NDUFS1 WASHC5 MDM2 ACTN4 ABCC6 CRTAP DYNC2LI1 MKS1 PRKCSH SHH MEFV REN DEAF1 NDUFAF8 PIGL XYLT1 PEX12 PTPN11 SLC4A4 ITGA2B DLST FOXF1 GRIP1 PIGW PHEX CRB2 COQ6 GDNF EYA1 LIPT2 PROKR2 APC2 ARHGDIA CTNS TCTN3 SMARCC2 PPOX F10 PKHD1 ODC1 TPRKB WDR19 RAB3GAP1 KCNJ11 RPS26 TRNW STRADA RPL18 CDK5RAP2 PRKAR1A ZNF687 WDR4 EHMT1 RPGRIP1L TRNK SLC30A9 INPP5E UMOD SDHB TMEM67 SF3B4 INSR MEOX1 VAMP7 CEP290 FAT4 PTPN22 ARL6 SLC34A1 BCS1L SRY EPAS1 KCNQ1OT1 PHYH SDHB CISD2 TRIM28 PAX2 HPRT1 GCM2 LIG4 COL3A1 ABCG5 ALDOB NXN GP1BB ENG CENPJ IQCB1 MINPP1 CASP10 PTPN22 LMOD1 TRNT GLIS3 POGZ F8 CA2 FOXH1 TRNL1 PIGP NOTCH2 SDCCAG8 ALX4 PLD1 GSN ENPP1 RNU4ATAC SMARCB1 SF3B4 STXBP1 BCOR VHL GREB1L KCNJ11 MLXIPL SLC37A4 RAB18 AGXT MAPKBP1 RYR1 NPHP3 GNB1 DPF2 TP63 CEP135 HNF1B HPRT1 PEX13 GPC3 RPGRIP1L WDR19 JAM3 PRPS1 CEL TCTN3 SIX5 NPHP3 TP53RK IL17RA UFD1 CHEK2 FREM2 AAGAB MKKS TGM1 TSC1 EIF2AK3 APC AKT1 YY1AP1 ARID1A CACNA1S ITPR3 NDUFA11 RAD21 G6PC RORA MAFB SDHC PTCH1 ALG8 HNF4A TBX1 PREPL TMEM67 INPP5E CCBE1 ARL6 FIP1L1 DNA2 PBX1 NPHP1 SOX9 NPHP3 PIK3C2A SCO1 SPECC1L TTC37 TMEM216 APC PIK3CD BRAF SDCCAG8 DHDDS KIF14 FANCE FCGR2A TAF13 RAD21 LMNB2 GPC4 CEP164 ARL6 SERPINH1 CPT1A MARS1 ALMS1 INVS FANCI PEX26 FLRT3 SMARCAL1 NPHP1 SMARCE1 CHST14 WRN SRCAP LRIG2 GP1BA TRNS2 FGFR3 DNASE1 SDHB NIPBL RPGRIP1L SLC22A12 TMEM107 TMEM138 ZAP70 ND3 GNAS ALOX12B ND1 CILK1 NOD2 ZEB2 B9D1 NODAL RRM2B USP9X CLDN16 MYOD1 CSPP1 MAFB FIBP PEX3 WNT4 COX6B1 ETFDH OCRL UBAC2 COX1 HNF4A RAI1 TMCO1 BUB1B MAGED2 CRB2 PEX1 NPHP4 MMACHC RERE ALMS1 AQP2 HDAC8 TRAF3IP1 TBC1D8B PUF60 CASR ARID1B OCLN HELLPAR THBD SNAI2 CSPP1 CCBE1 MCM5 PIK3CA BBS5 IRAK1 CPLANE1 ARX POU6F2 POLR3A FGFR2 SEC23B RET TFE3 MKKS HYMAI SHH SARS2 CD151 SDHD ABCC8 CSPP1 KNSTRN TMEM216 SDCCAG8 BRAF SLC7A9 RPL11 KIF14 KMT2D SLC3A1 IGF2 NUP85 CASR PLA2G2A MLH3 GPC4 HLA-DPA1 CHD7 RPGRIP1 PEX16 PTPN22 CLPB PIGN ND3 DCLRE1C PEX1 CFH TRNN SUFU NPHS1 FOXF1 KLRC4 CCND1 COG7 IFT80 TSC1 BSND USP9X TRNK SMC1A MEN1 ADCY10 ESCO2 ZFPM2 AP2S1 JAK1 PRCC HMBS ADA2 SLC4A1 RSPO2 C4A GANAB WT1 CLCNKB PPP1R15B FGF8 CTNS WASHC5 CTU2 BSCL2 STAT4 SETD2 XDH AMER1 IFT172 TMEM216 KIAA0753 ZNF423 ARVCF AKT3 ATRX BAP1 ALDOB PGAP2 C8ORF37 RECQL4 MSH2 MKS1 EHMT1 KLHL7 FH RECQL4 MYH9 CFH NDUFS2 CD2AP FGFR2 CEP120 CDKN2A OFD1 AGGF1 FLNB ANOS1 PHGDH HRAS MRPS22 FGFR1 DMXL2 MOCOS TALDO1 IL17RC TRIM28 TCTN2 NSMF KDM6A TRIM8 CEP63 BAX WDR62 MAP2K2 MKKS CPT2 MCFD2 CAV1 BRF1 SNRPB IL10 COX3 OFD1 PAX4 TRIP13 MCTP2 CLCNKA PIK3C2A COX8A SLC34A3 EP300 DGKE SCNN1B PIK3CA KCNE5 PLVAP PDE6D CEP152 ITGB3 SRP54 SOX11 MAP3K7 COL4A4 ERCC6 IL17RD SLITRK6 FGA USP8 REN CC2D2A WT1 WDR35 CHRM3 POLE SDHC GREB1L NPHP3 WIPF1 GNA11 SF3B4 F2 HNF4A FAS DYNC2I1 LRP4 PDE6D OSGEP BBS1 HNRNPU GTF2IRD1 NEUROD2 CFI GPC4 LAGE3 LAMB2 LPIN1 SOX9 APOA1 MAX PDX1 MYLK EP300 TP53RK ADAT3 SMC3 STAG1 STAT4 SLC29A3 FOXE1 ITGB4 FGFR2 CLCN5 GATA3 ESCO2 MYH11 SLC34A1 ATP1A1 KDM6A RPGRIP1L MAD2L2 SPRY4 RPGRIP1L RFWD3 FANCE KRAS CCND1 TLR4 ERCC8 CD81 PEX19 PORCN PREPL DICER1 FANCA SCN1B ANTXR1 BRCA2 COL4A3 TBX1 BBS4 CHRNA3 C4A TREX1 KIAA0753 CAMKMT DCHS1 ANLN KANSL1 MMP1 CHD7 ELN TSC2 SETBP1 WT1 PEX10 MMUT FLNA SLC17A5 NEK8 LMX1B PNKP CFI ELP1 ALG9 TMEM237 TBL2 STK11 SLC7A7 CDKN2B WT1 RET NUP133 PEX5 PCK1 NIPAL4 RPS28 CASP10 AKT1 PRDM16 ASPM IFT27 ITGA3 NBN GCK CDKN1C TRNE SLC25A22 DCC COL7A1 WNT5A SHANK3 CFHR5 LIMK1 BBS10 FAM20A SASS6 SRY SLC34A1 PIGO FANCI LEMD3 CLEC7A SALL1 NOTCH2 NSD2 ZIC3 DYNC2LI1 BMP4 YAP1 NLRP3 NPHP3 CLDN19 OGG1 PIGA HLA-DPB1 ATP6V1B1 KCTD1 DMRT3 TRAF3IP1 PIEZO2 CTNNB1 VHL GANAB KLLN ITGA8 OCRL GPR35 TMEM67 LRP2 STAT5B NLRP3 ROBO2 HPRT1 MSH3 HYLS1 NEUROD1 BMPER MED25 FLCN SMS CTLA4 STS MDM2 TCF4 LIPN THOC6 PET100 PDX1 CACNA1D WDR73 EPG5 ERCC4 TREX1 BCOR KCNJ1 TRNH KIF1B IL6 PTPN22 DNMT3A CDC73 RFWD3 KANK2 RPL15 FGFR1 WDR19 BICC1 HNF1A EFEMP2 TTC8 ADA2 RPS15A HESX1 KMT2A STRA6 NR0B1 TMEM70 RBM10 PEX1 GATA3 WNT3 PYGM ARID2 TBX15 NR5A1 VHL BLM RPS27 FASLG CFHR3 COX14 PPP2R3C KIF7 AQP2 NPHP1 CYTB DDX6 COQ2 HBB ZIC3 POU3F4 MSH6 SCARB2 FLNA PPP3CA SLX4 LARGE1 HABP2 CLCN5 WDR73 PHF21A ITGB3 MDH2 NIPBL ITGA2 BBS2 PALB2 CFB KRT17 WDR11 MTRR PEX2 PGM3 IL7R STXBP1 ARL6IP6 FLI1 NF1 SON DSTYK CYP4F22 CHD7 HLA-B NARS2 BRCA2 APOE PAX6 RBM8A TIMMDC1 BCS1L GRIA3 TTC37 DICER1 SC5D OFD1 TMEM231 PALB2 NRAS SDHD SIX5 APOB TFAP2A HNF1B FREM1 PEX6 AGT SOX18 REST ANKLE2 SC5D TBX22 PRMT7 ZIC2 KCNJ10 TCTN3 GPC3 DVL1 B9D2 KCNQ1 NDUFAF3 HMGA2 CFHR1 SLC4A1 PDSS2 PIK3R2 BBS10 FOXP3 KYNU HNF1B FN1 PCSK9 FGFR2 SOX10 FANCB DMP1 KIF14 ENPP1 OSTM1 AKT1 KEAP1 PHC1 INS UMPS OCRL RPL26 DISP1 CDKN1C LEMD3 YWHAE CYP11B2 LRP4 NSUN2 TRRAP COLEC10 ATP7B CHST14 IL23R PTPN12 CHRM3 DHODH DHCR7 ZMIZ1 CHD4 RBM10 DPH1 LYZ KCNJ10 CWC27 OPLAH MASP1 MYCN KRAS PHYH CDC42 TMEM216 DNASE1L3 TASP1 CYP27A1 DACT1 IFT122 NDUFB3 HOXD13 RPL5 ROR2 COL4A1 USP8 RTTN MED25 PEX10 CCND2 MVK IFT27 SULT2B1 RREB1 CEP57 B9D2 CFI RAD51C COQ8B DLL4 ZNF592 PKDCC TBX1 CEP164 PIGT GEMIN4 DYNC2I2 PIK3CA KIAA0586 PTEN AMMECR1 COX20 DPH1 PEX3 FLNA GCDH RAI1 RMND1 PIK3CA MCPH1 HRAS AFF4 PTPN11 IGF2 KAT6B HNF1B IFT172 ND1 NDUFAF6 SCN2A RPS7 NDUFS3 PIGL SPP1 PLCD1 NSDHL NDUFAF2 WDPCP KAT6B TMEM67 CPT2 GLI3 FGFR1 BRIP1 CDKN1B NUP133 PRKCD POMT1 PIK3CA AHI1 PORCN FLNA CD46 FAH RAI1 TMEM67 BCOR NEU1 CYB561 CEP55 NADSYN1 NAA10 ATRX GDF6 MAX SLC12A3 CPT1A ADA C1QA UBR1 PIGN GDF6 IKZF1 UBE2T GALNT3 TSC2 CAD KYNU HMGA2 TTC21B DHX16 LTBP4 COL4A3 INF2 SKI STAT3 NRAS KCNA1 DCC RPS24 FKTN FLNA NDUFS2 TFAP2A RPL35 RPS17 SDHA COMT CDC73 SBDS SCNN1G GLA LRP5 BBS1 PIGV APRT LAMB3 PIEZO2 KCNQ1OT1 SLC36A2 ACTB NUP93 TBC1D20 SNAP29 CCDC28B ABCC8 PAX2 MBTPS2 FLII FN1 SALL1 CDKL5 SLC26A4 CC2D2A EBP NDUFAF5 XRCC4 FANCA NUP205 YAP1 PMM2 CLDN19 CEP290 ALPL ACP5 FLNA CPT2 STAT3 TRIM37 RPL31 WNT4 IFT140 CCN2 DLC1 SGPL1 NDUFAF3 SDHB EP300 HSPG2 TBCK IRF2BP2 CCNQ BUB1 MYO1E SHPK C3 PC NF1 CEP41 POMT2 DHCR24 ARID1B RMRP NUP133 PEX6 WAS ACSL4 MICOS13 KCNJ11 IGF2 H19-ICR B3GLCT CCR1 TPRKB FH HIRA LRIG2 TTC21B GSN PGK1 FOXI1 TLR2 MOCS2 CDKN1B TELO2 SSR4 CTLA4 DACT1 HLA-DRB1 FIBP SH2B1 RBM8A ALOXE3 CDC42 HNF1A TCTN2 VHL TBX3 FAT4 NABP1 FBN1 NUMA1 LMNB2 PTPRO ERCC8 LAGE3 FANCB FCGR2B SALL4 GBA DZIP1L MDM2 LAMA3 CDON NOTCH2 KAT6A AVPR2 STRADA BBS12 CLCN5 NRIP1 DYNC2I1 ARL3 NPHP1 WWOX PCK2 SI LRP5 WDR35 DYNC2I2 CTNNB1 SCNN1A SNRPB DHX37 SLX4 FGF8 ABCA12 PKD1 TRIP13 CDC73 BBS7 NPHP4 ELN NOTCH3 KMT2D DIS3L2 SMARCAL1 PKD2 TRNL1 WNT3 JMJD1C IARS1 TRNT1 VPS33A ARMC5 CREBBP CCR6 DIS3L2 LMX1B COX2 BRCA2 SLC25A20 GTF2I KNL1 AURKA ALG9 ACTG1 KYNU SOX4 GPC3 ATP6 WDR19 TRPC6 POR VDR LMNA ERCC4 THOC6 MBTPS2 GATA1 SLC1A1 COQ7 VPS33A GDF3 FH CACNA1D BBS9 PEX2 SETBP1 WT1 SIX3 FKRP GLA PEX13 RPL35A MNX1 ANTXR1 DSE ND6 HLA-B FLNA B3GLCT CPOX LEMD3 FREM1 DLL1 BBS4 NDUFAF3 SLC2A2 NDUFS4 SAA1 FGFR3 ABCC6 RBBP8 TRNS1 NCAPG2 COL14A1 YY1 RAG2 RPL11 TMEM107 DUSP6 PNPLA6 PLAGL1 MFSD2A CREBBP PDSS2 EVC2 DYNC2LI1 RARB MBTPS2 WFS1 ND4 TMEM126B NDUFAF1 MYOCD NAA10 TSC1 FAS DCHS1 SLC6A17 G6PC3 FLCN EXTL3 DYNC2I2 PAX1 PUS3 CTNS CDK6 SLC3A1 RAG1 VAC14 BUB1B ATRX IGF2 FANCD2 TBL1XR1 PEX12 ADAMTS13 DCDC2 ATP7A LMNA CYBC1 NPHP1 SEMA3A SMARCD1 MOCS1 CD109 TMEM67 LZTFL1 CA2 LMX1B GAS1 DYNC2H1 FRAS1 ERCC6 PIGY NEU1 GP1BA FANCL BTNL2 PGAP3 SMOC1 PLEC REST RPS29 ND2 TGIF1 HSPA9 PIGA ERCC8 ACVRL1 AGTR1 TCN2 MAFB NUBPL DDX59 GP1BB WNT4 WNT4 MAP3K7 ADA PIGY KLF11 NUP107 SALL4 C3 PACS1 GLI2 PKD1 LDHA CCDC141 FUZ MAP3K1 PEX14 C1QBP SLC12A3 LHX1 RPS26 GLI3 AR ZBTB16 SPART B2M AXIN2 CEP290 DYRK1A IL12A-AS1 UQCC2 MME MKKS CDKN1B STIL TP53 WDR4 BNC2 ACTG2 LMX1B ITGB4 SCARB2 ZAP70 AMMECR1 TMEM138 GNB1 NDUFV1 SCO2 HMOX1 IFT140 GRHPR CD96 CLIP2 PROKR2 PIGT GLI1 FGFR3 FANCF UMOD POR PRKCSH BAZ1B C8ORF37 WDR19 FLCN ETFB STOX1 AIP DICER1 GCM2 TMEM231 LDLR XRCC2 DNASE1L3 FGF23 SPRY2 GLIS2 HNF1A CDKN2C COLEC11 SIX1 MEN1 ATRX POU6F2 IFT172 ITGA2B SOX17 KMT2A CCDC22 TBC1D24 CEP290 INSR PKD2 INF2 DIS3L2 CORIN TNXB NDUFS8 TBC1D24 NLRP3 FOXRED1 CEP290 IFT80 EXT2 EXT2 NDUFB10 SLC2A9 COG1 XPNPEP3 CDK4 HBB CFH GABRD BRCA1 KCNAB2 USF3 GCK NDNF H19 EMP2 HDAC4 SDHD ND5 F5 SDHD IL2RG MEFV SERPINF2 RAB3GAP2 FIG4 ELP1 ASXL1 FGFR3 TXNL4A ARX NUP107 CASR KISS1R METTL5 FUT8 KITLG NDUFV2 TBX1 CLCN5 EYA1 ENPP1 IFT43 GPKOW COL4A4 FAS CCNQ NPHS1 COG6 ADAMTS3 PIGL PUF60 TRAPPC14 AGPAT2 NOD2 RAI1 HOGA1 CC2D2A IFT43 COL4A3 SIK1 TMEM237 SLC12A1 COPB2 SLC37A4 TRIM32 SEC63 TMEM126B INTS1 BMPER DZIP1L TRNW PEX5 CCND1 COPA FRAS1 NSD1 MLH1 NPM1 WDR73 FLCN FOXP1 ND6 GRHPR MYO5B TACR3 PEX7 AVIL AMMECR1 TBX18 PML ND2 CREBBP MYMK APC NADK2 TTC8 RPS10 CEP120 SMO PLG INTU CD46 ERCC6 ARNT2 SLC26A1 NDUFB9 SLC6A19 KIF1B CEP55 VHL CPT2 IQSEC2 ANOS1 HSD11B2 COA8 B9D1 LMAN1 ZEB2 UMOD GNAO1 ABCC8 FBXW11
Protein Mutations 4
C282T C677T K55R Y93H
HP:0000819: Diabetes mellitus
Genes 547
VANGL2 NR2E3 WFS1 GLIS3 FOXH1 PROK2 TRNL1 NDUFS6 PPARG PEX1 FBN1 LMNB2 LIMK1 PRPF4 RP2 CFTR PAX4 PPARG CTNNB1 HBB COL2A1 POC1A KCTD1 LIG4 PDE6B TOPORS ARL2BP ABCC8 SLC30A8 KCNJ11 MLXIPL CDON WRN PRKAR1A PROM1 TRNE NEUROD1 CNBP KCNJ11 MMP14 C8ORF37 APOE SLC16A2 CTRC ZBTB20 BBS2 WFS1 BLK WFS1 KRAS COX3 CYTB ZFYVE26 FGF8 SOX2 XRCC4 CDH23 ELN CEL GPR35 SLC29A3 FOXC2 EIF2AK3 PTF1A TCF7L2 HNF1A ARMC5 MKKS PDE6A PDX1 COX2 PSTPIP1 EIF2AK3 GTF2I NEUROD1 CNOT1 ATP6 USH2A ITPR3 LMNA NDUFA1 NDUFA11 CAVIN1 PCARE HLA-DRB1 CAT TCF4 AIP GCK PLCD1 HNF4A HERC2 PDX1 OTX2 HJV TRNH IL6 PWAR1 PAX4 TKT RPE65 REEP6 HNF4A RLBP1 SIX3 CFTR IGF2BP2 HNF1A POMGNT1 ND1 SAG GCK BLK GPD2 RAC1 AKT2 SEMA4A WRAP53 MOG CP ARL6 AIP ALMS1 SBDS NPAP1 CDHR1 ITCH BLM HNF1B NSMCE2 ARNT2 TWNK PDX1 PDX1 DLL1 ROM1 NDUFAF3 SNORD116-1 PDE11A NDUFS4 FOXP3 WRN ZMPSTE24 UBR1 ZNF513 INSR IARS1 SLC19A2 RP1 GJA1 TRNS2 TRNS1 PRKACA PCNT FLT1 NOTCH3 TULP1 LMNA MC4R PRKACA PNPLA6 CAV1 IFIH1 NOP10 NEUROD1 MEN1 PLAGL1 ND3 TRNK ZFP57 BRCA2 SPATA7 OPA1 VANGL1 DMXL2 NODAL GJB4 EDA2R HBB CA4 MKRN3 SNORD115-1 FXN GATA6 WFS1 RP9 ND4 TMEM126B NDP BRCA1 SLC19A2 ND5 HMGA1 NDUFAF1 MERTK RETN PRPF6 HLA-DQB1 SPINK1 CP COX1 HNF4A RPGR ND6 MST1 GUCA1B NDUFA6 EDA HNF1A RNASEH2C ALMS1 TIMMDC1 HFE CIDEC DNAJC3 INS KIAA1549 IRS1 LMNA PROKR2 GCK PRKAR1A HNF1B LEPR POLR3A HYMAI SNRNP200 LIPE HYMAI CNGB1 CLRN1 ZIC2 APOA5 GAS1 EFL1 PIK3R1 TTC8 SARS2 HNF1A GJA1 PTF1A RNASEH2B TRNF NEUROG3 LRP6 TDGF1 NDUFB11 HESX1 NDN FOXP3 HNF1B ABCC8 ND2 TGIF1 PRPH2 DNM1L PRSS2 BBS2 INS NUBPL LIPE SAMHD1 DISP1 DHDDS LEMD3 DKC1 MKRN3-AS1 KLF11 IDH3B TRNL1 GLI2 FUZ SMPD4 COX1 PLIN1 SLC25A4 CNGA1 LHX1 SNRPN INS AGPAT2 GNAS SUFU DNAJC21 FOS SPINK1 CAV1 ARL3 HFE TUB TRNK KLF11 AKT2 NDUFB3 PPP1R3A NEK2 STAT1 PRPF3 RDH12 USP8 IFT172 BSCL2 ABCC8 HAMP PDE8B NDUFV1 PNPLA2 CYP19A1 LMNA ARHGEF18 MMP2 ABCA4 LRAT NDUFS7 INS TRNL1 LMNA ABCC8 PAX4 PRSS1 CLIP2 BEST1 SCAPER PIK3R1 ZNF408 SIM1 KCNJ11 PTRH2 FXN TRMT10A CASR BAZ1B ATM CPA1 NDUFS2 BRAF ADAR ZFP57 APPL1 TRNQ TRNQ RRM2B DNAJC3 STOX1 RFC2 PRCD DHX38 HNF1B IRS2 SMAD4 HNF1A ND1 KCNJ11 SLC7A14 PDE4D CDKN2A IL18BP PTRH2 NDUFS3 TRNF NDUFAF2 FAM161A VANGL2 FGFR1 CISD2 ABCC8 LEP XRCC4 TTPA NHP2 NKX2-5 AMACR MAGEL2 KDSR POLD1 KIZ INS CORIN NDUFS8 DCAF17 NDUFAF4 FOXRED1 PEX6 COX3 PRSS2 MTNR1B BMP2 PEX10 PARN PAX4 NDUFB10 ND1 INSR PRSS1 TP53 NPM1 MAGEL2 HBB POLG2 SOX3 SLC12A3 AIRE UBR1 GCK IL2RA TRNW WFS1 IMPG2 TRNS2 PTCH1 LEPR KCNJ11 IL2RA CLCNKB ATM STAT3 AGBL5 CARS1 HMGA2 COX2 MAFA TTC7A TWNK GJB3 LMNA AHR PLAGL1 PALLD NDUFS1 CRX CRB1 GATA6 GLRX5 ENPP1 CEL HNF4A CTC1 TRNV RNASEH2A HYMAI NDUFV2 IMPDH1 APPL1 BBS1 PALB2 GTF2IRD1 EIF2S3 SHH AEBP1 SLC2A2 PRPF31 MTHFR KLHL7 NDUFAF8 TERC PDX1 GCK TP53 AGPAT2 CCDC28B SLC29A3 ABCC8 PLIN1 GATA3 NRL PDE6G RBP3 PDX1 DCAF17 IPW NDUFAF5 MTHFR XRCC4 CTNS GCK FGFR1 STUB1 HNF1A BLM ELMO2 STAT3 HGSNAT KCNJ11 CERKL TRNW RTEL1 TRNC CTRC KCNJ11 RHO IDH3A RP1L1 TREX1 ITCH PNPLA2 PWRN1 CNOT1 FOXP1 ND6 EYS SRP54 TINF2 INSR IFT88 POLG ARL6 AHI1 ELN PTPN22 CEP19 PRPF8 POLA1 MAPK8IP1 MAK ND5 TERT LIPC BSCL2 AR CISD2 KCNJ11 OFD1 USB1 TBL2 RGR ERGIC1 FSCN2 NDUFB9 IER3IP1 INS DMPK PTPN1 NSMCE2 GPR101 HNF4A PPARG IFT140 PPARG PDE4D GCK TRNS1 SPINK1 PPP1R15B ABCC8 STAT1 IGF1R TRNE