SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT01282151 (3) NCT03058094 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00834665 (2) NCT00969137 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02133144

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Effects of Overfeeding Followed by Weight Loss on Liver Fat Content and Adipose Tissue Inflammation

A. BACKGROUND Accumulation of fat in the liver due to non-alcoholic causes (NAFLD) is associated with hepatic insulin resistance, which impairs the ability of insulin to inhibit the production of glucose and VLDL . This leads to increases in serum glucose, insulin and triglyceride concentrations as well as hyperinsulinemia. Recent epidemiologic studies have shown that a major reason for the metabolic syndrome as well as the accompanying increased risk of cardiovascular disease and type 2 diabetes is overconsumption of simple sugars. The investigators have recently shown that overeating simple sugars (1000 extra calories/day, "CANDY" diet) increases liver fat content by 30% within 3 weeks (4), and recapitulates features of the metabolic syndrome such as hypertriglyceridemia and a low HDL cholesterol concentration. The fatty acids in intrahepatocellular triglycerides may originate from peripheral lipolysis, de novo lipogenesis, uptake of chylomicron remnants by the liver and from hepatic uptake of fatty acids released during intravascular hydrolysis of triglyceride-rich lipoproteins (the spillover pathway). A classic study using stable isotope methodology by the group of Elisabeth Parks showed that in subjects with NAFLD, the excess intrahepatocellular triglycerides originate from peripheral lipolysis and de novo lipogenesis. It is well-established that ingestion of a high carbohydrate as compared to high fat diet stimulates de novo lipogenesis in humans. Meta-analyses comparing isocaloric high fat and high carbohydrate diets have shown that high carbohydrate but not high fat diets increase increase serum triglycerides and lower HDL cholesterol. Since hypertriglyceridemia results from overproduction of VLDL from the liver, these data suggest the composition of the diet influences hepatic lipid metabolism. Whether this is because overfeeding fat leads to preferential deposition of fat in adipose tissue while high carbohydrate diets induce a relative greater increase in liver fat is unknown. There are no previous studies comparing effects of chronic overfeeding of fat as compared to carbohydrate on liver fat or and the sources of intrahepatic fatty acids. A common polymorphism in PNPLA3 at rs738409 (adiponutrin) gene is associated with a markedly increase liver fat content. This finding has been replicated in at least 20 studies across the world. The investigators have shown that PNPLA3 is regulated by the carbohydrate response element binding protein 1. Mice overexpressing the human I148M PNPLA3 variant in the liver exhibit an increase in liver triglycerides and cholesteryl esters on a high sucrose but not high fat diet. These data suggest that overfeeding a high carbohydrate as compared to a high fat diet may increase liver fat more in subjects carrying the I148M allele than in non-carriers. B. HYPOTHESIS The investigators hypothesize that overfeeding a high fat as compared to an isocaloric high carbohydrate diet influences the source of intrahepatocellular triglycerides. During a high fat diet, relatively more of intrahepatocellular triglycerides originate from peripheral lipolysis and less from DNL than during a high carbohydrate diet in the face of a similar increase in liver fat. It is also possible given the lack of previous overfeeding data comparing 2 different overfeeding diets that the high fat diet induces a smaller increase in liver fat than a high carbohydrate diet even in the face of an identical increase in caloric intake because a greater fraction of ingested fat is channeled to adipose tissue than the liver. The investigators also hypothesize that liver fat may increase more in carriers than non-carriers of the I148M variant in PNPLA3 during a high carbohydrate than a high fat diet. C. SPECIFIC AIMS The investigators wish to randomize, using the method of minimization (considers baseline age, BMI, gender, liver fat, PNPLA3 genotype) 40 non-diabetic subjects with NAFLD as determined by the non-invasive score developed in our laboratory or previous knowledge of liver fat content based on MRS to overeat either a high carbohydrate or high fat diet (1000 extra calories per day) for 3 weeks. Before and after the overfeeding diets, will measure liver fat content by 1H-MRS and the rate of adipose tissue lipolysis using doubly labeled water (DDW) and [1,1,2,3,3-2H5] glycerol as described in detail below. The investigators also wish to characterize glucose, insulin, fatty acid and triacylglyceride profiles before and while on the experimental diet. An adipose tissue biopsy is taken to determine whether expression of genes involved in lipogenesis or lipolysis, or those involved in adipose tissue inflammation change in response to overfeeding, and for measurement of LPL activity. After overfeeding, both groups will undergo weight loss to restore normal weight as described in our recent study. The metabolic study is repeated after weight loss.

NCT02133144 NAFLD
MeSH:Inflammation Weight Loss
HPO:Decreased body weight Weight loss

2 Interventions

Name: overeating fat

Type: Behavioral
Group Labels: 2

High carbohydrate diet High fat diet

Name: overeating carbohydrate

Type: Behavioral
Group Labels: 2

High carbohydrate diet High fat diet


Primary Outcomes

Measure: Liver fat content (1H-MRS) and intra-abdominal and subcutaneous fat (MRI)

Time: 3 weeks

Description: the rate of DNL and adipose tissue lipolysis is measured using doubly labeled water (DDW) and [1,1,2,3,3-2H5] glycerol

Measure: De novo lipogenesis (DNL) and measurement of lipolysis

Time: 3 weeks

Secondary Outcomes

Description: Laboratory tests including fasting glucose, insulin, C-peptide, liver enzymes, total, LDL and HDL cholesterol and TG concentrations PNPLA3 genotyping is performed also

Measure: Analytical procedures

Time: 3 weeks

Other Outcomes

Description: Needle biopsies of abdominal subcutaneus tissue will be taken for subsequent isolation of RNA for measurements of gene expression (by quantitative PCR). Fat cell size is also measured.

Measure: Biopsies and analysis of subcutaneus adipose tissue

Time: 3 weeks

Description: Indirect calorimetry is the method by which metabolic rate is estimated from measurements of oxygen (O2) consumption and carbon dioxide (CO2) production.

Measure: Indirect calorimetry

Time: 3 week

Purpose: Prevention

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 I148M

The investigators have shown that PNPLA3 is regulated by the carbohydrate response element binding protein 1. Mice overexpressing the human I148M PNPLA3 variant in the liver exhibit an increase in liver triglycerides and cholesteryl esters on a high sucrose but not high fat diet. --- I148M ---

These data suggest that overfeeding a high carbohydrate as compared to a high fat diet may increase liver fat more in subjects carrying the I148M allele than in non-carriers. --- I148M ---

The investigators also hypothesize that liver fat may increase more in carriers than non-carriers of the I148M variant in PNPLA3 during a high carbohydrate than a high fat diet. --- I148M ---



HPO Nodes


HPO:
HP:0004325: Decreased body weight
Genes 1817
RPS19 ND4 MMUT NDUFS6 LPIN2 COG4 PGM3 PUS1 TRIT1 LIPA PRNP CD247 EEF1A2 RHBDF2 POC1A GP1BB ASS1 FANCC IL2RG NDUFS1 RET SEC24C SUCLA2 NELFA STING1 ELAC2 PEX11B POLR1A COL6A1 KRT10 TINF2 SMARCD2 WWOX NSD2 FBXL4 FTSJ1 TRPV4 CACNA1S RNU4ATAC FOXH1 CDH23 MAGEL2 PLAG1 JAK2 COL1A1 PRF1 RAD51 ERCC4 HNRNPH2 ASXL1 AHDC1 KCNJ6 SEC31A IL21R MLH3 NECAP1 NUP62 SIN3A GCDH ERCC2 FANCL NDUFA1 PRPS1 CAVIN1 DDOST KMT2A DLD SHROOM4 EVC MCCC1 MCM9 RET TPM3 SIL1 SDHB GHSR GRIA4 BRAF NUP188 ATP6V0A2 MAP2K1 BRAF PROK2 HADHB SUCLA2 CHEK2 KRT14 UFC1 PNPLA1 TPM2 TTR GATM PRNP SPOP IGH GPT2 DNAJC21 LETM1 PTDSS1 GCK SFTPC ESR2 ATP6V1A RAG2 FAM149B1 PEX19 ACADM PANK2 TNFRSF13C SELENON RPL26 SBDS NPAP1 RERE KLLN FANCM SLC13A5 KIF7 SNORD116-1 PDE11A FOXP3 TGFBR2 CIITA UBR1 OSGEP ALAD NR1H4 VPS13B GJA1 FTO GLI2 STAT6 FLT1 CPLANE1 CAV1 RARS2 KRT14 SURF1 JAG1 TACO1 ZFP57 UBE3B SLC9A6 GBE1 RAB3GAP1 GNPTAB STT3B FANCG MKRN3 KCNJ10 POLG VDR ND5 RPS19 CASK H19-ICR KRT6B ARHGAP31 RFT1 CDON ATP6V0A4 SCNN1A SIX3 SERAC1 GALC MST1 PRDX1 WDR11 RAI1 LAMA2 PHGDH TRNV PEX14 TMEM165 NDUFA6 MYH7 ORC4 ZIC2 KMT2E CSF2RB BMPR1A GABRG2 NFKB2 PEPD FGF8 SELENON POLR1D SHH XYLT2 PSMB4 SKIV2L LYRM7 LAT STXBP1 SON RET CCDC8 NODAL LRP12 SKI JAK2 NOS1 TAZ ERAP1 GRIA3 SLC25A21 SMC1A MTFMT GAS1 CIITA SLC25A13 ARX PRTN3 NTRK2 TRNF ZAP70 NDUFB11 TIMM22 VIPAS39 DYRK1A HCFC1 BCOR FLCN PTPN22 CYP24A1 UBE3B CHRNG PIGQ TSR2 IL12A HMGA2 PLA2G6 POLG CDKN1A HCN1 DNAJC21 PARN NEUROG3 GMNN HAVCR2 NDUFV2 MTHFR NECTIN1 FRMPD4 ARCN1 NALCN CENPT NRTN ACSL4 SLC22A5 HSD17B4 VPS33B CASR KRT5 NTNG1 GNAS CYP17A1 ALG11 IL2RG COA3 SCNN1G CD96 TGFB3 SDHAF2 SDHD PSAT1 WT1 FBN1 MBL2 NRXN1 ABL1 CHD7 LMNA NDUFS7 SYNE1 CYP11A1 CIT EDNRB XPA IGHMBP2 SETD5 SYNGAP1 PPP3CA LRBA NFU1 COX7B PEX12 KCNJ18 TRMT10A ALDH18A1 LAMC2 ACTL6A TIMM50 MMUT LRPPRC FANCD2 GBA PYGL VPS45 PPM1B UPF3B NSDHL CYP11A1 TRNQ RRM2B RFC2 CD3D RELB KIF15 TDGF1 PMM2 SEMA3C TFAM USP7 CDKN2A TRNS1 LRRC8A ACSF3 SLC35A2 GNRHR ZNF711 NAGS FLI1 ETHE1 MYL2 JPH3 TBR1 PEX19 CEP152 TAPT1 TMEM127 SLC7A7 INS MAP2K1 NDUFAF4 MOGS TBL1XR1 SLC6A8 FOXH1 NDUFAF5 SLC25A11 RARA EOGT ND1 GPR161 NDUFS4 EIF4G1 PTEN PHOX2B MTTP STRA6 NDUFB8 SDHA FANCC CARS2 COA8 DHCR7 PEX1 PEX12 AARS1 CLCNKB CLCNKB CKAP2L RPL27 AVPR2 BPTF COX10 OTULIN UBA1 MED17 GPC3 PALLD GAS1 NDUFS1 LYRM4 GALC ERCC5 LHX4 KBTBD13 AGTPBP1 MPL CDON DOLK MRPS2 NNT NFKB2 DEAF1 NDUFAF8 DNA2 HADHA ATP6V1E1 DALRD3 MRPS14 COL6A3 PEX12 DLST LRP5 TNFRSF13B TGIF1 RPS6KA3 FLNA COL6A1 CTNS TCTN3 PNP SLC11A1 EARS2 PET100 TERT TGM1 TDGF1 KCNJ11 KRT17 TFRC ASNS PEX6 TRNW GLYCTK STRADA RPL18 TGIF1 PRKAR1A TRNK TGDS IGF1 CYP7B1 KRT6A SDHB SLC34A1 NDUFAF1 WDR26 OBSL1 UBTF EPAS1 GJA1 SDHB BSCL2 SCNN1B TRIM28 ATP5F1A AKR1D1 DHCR24 TSHR KRT5 POLR3A GOT2 SVBP LIG4 IL7R ALB TPM3 SLC25A13 ALDOB RMRP DLL1 IFNGR1 CEP57 SEMA3D KDM6A UNC80 PTPN22 TAF13 AVP HLA-DQA1 TRNL1 PIGP PEX11B NOTCH2 CD81 NODAL HESX1 DNAJC13 TBC1D23 RAB39B ANTXR2 COX10 SCN8A ORC6 C12ORF65 PPARG WDR11 STXBP1 HADHA WNT2B TYMP SNCA MLXIPL ADK MCCC2 CPS1 PCLO AGXT CYP27B1 CCND1 CPLX1 SLC5A1 ATP6V0A2 LMNA NSDHL DMD GNB1 RIT1 RLIM KRAS CDK10 TSHR DISP1 PEX13 GAS1 RB1 TCTN3 ANKLE2 TCF20 UFD1 SCNN1B RAG1 ERCC2 DLL1 TXNRD2 CARMIL2 TP53 EIF2AK3 PIK3CA AKT1 YY1AP1 RNU4ATAC CNOT1 POLE NACC1 GABRB2 FAN1 SCNN1G NDUFA11 FOXG1 PMPCB ORC6 NFIX MSH2 HLA-DRB1 CYP7B1 DEGS1 HERC1 EWSR1 SPRTN SDHC CDON ADAR CD79A PREPL MED12 ATRIP USP9X FIP1L1 PWAR1 SOX9 SCO1 TTC37 TMEM216 IL7R TCN2 HLA-DRB1 ACTB NBN BRAF CACNA1B ERMARD PSMB8 DHDDS FANCE EBP TJP2 RAD21 RAC2 CSNK2A1 GLI2 FANCI PEX26 DISP1 POLG FGF8 BMP1 PSAP GABRA5 CENPJ WRN INSR WDFY3 TRNS2 NDP PIGB PARN HTT DPM1 ZAP70 TK2 SYP ND3 ND1 NOD2 BRCA2 ZEB2 IFIH1 LETM1 RRM2B CLDN16 MYOD1 KRAS LAMA3 BRCA1 PSMB9 PEX3 ATPAF2 COX6B1 PLAA ORAI1 OCRL CD19 UBAC2 COX1 LMNA RAI1 LMBRD1 AGPS NGLY1 SAMD9 BUB1B TRAC DDOST POMP PEX1 MMACHC TP53 CENPE FGFR1 AQP2 HDAC8 IL21 FOXP1 PUF60 ASAH1 STT3B MPL SPR OCLN KRAS DOCK3 CSPP1 MCM5 PIK3CA CPLANE1 STAG2 HTT POLA1 POLR3A SEC23B HYMAI CLTC ZNF335 RAG2 NAB2 HYMAI ALG13 TERT HMGCL SARS2 BTK KCNB1 DCLRE1C NDUFA12 SDHD ABCC8 TMEM216 CDON ZMPSTE24 NR3C2 TCF3 RPL11 FZD4 NDUFA4 ALG12 NNT PPP1CB KMT2D SLC3A1 NDUFB11 NUS1 TGFB1 IGF2 MEGF10 AUH MYH7 MKRN3-AS1 B4GALT7 CCDC47 TCF4 SLC10A2 ERCC4 AARS1 SIX2 HLA-DPA1 SURF1 PTS SELENON PEX16 NDUFA2 EPRS1 FGFR1 ND3 SMC1A SCN3A DCLRE1C RIPK1 PADI4 TRNN NPHS1 MRPL3 KLRC4 CCND1 DNAJC21 COG7 B3GALT6 PCCA ANOS1 BSND PNPLA6 SMC1A MEN1 ASCL1 NDUFAF6 RPL5 JAK1 ADA2 SLC4A1 CFTR CAVIN1 PPP1R15B NIPAL4 HLA-B RAB33B PDE8B CYP19A1 AMER1 NDUFS1 BMPR1A KIAA0753 ATP6V0A2 ARVCF NFKB1 PMS1 IQSEC2 DNM2 RECQL4 NDUFS2 ATRX EHMT1 KLHL7 FH PIK3R1 NDUFS8 SIM1 LARS1 FUCA1 SDHD NDUFS2 WHCR FGF17 JAK2 PLK4 SLC9A6 GATA2 SARS1 SFTPB AP3B2 ERCC5 TET2 CACNA1A TIMMDC1 OFD1 MRPS28 HRAS DMXL2 TKFC SAR1B TRIM28 DLG3 CD79B TRIM8 SLC25A13 NR0B1 BRCA2 KDSR RPS6KA3 GALT FDFT1 MAP2K2 MKKS EDN3 LCK NFE2L2 BRF1 RPS6KA3 IGH LRRK2 GTPBP2 IL10 COX3 NLRC4 ORC4 ECHS1 PEX13 MCTP2 CLCNKA PIK3C2A FGF8 COX8A MAGEL2 SLC34A3 NSUN2 EP300 CASP8 DNA2 PDE6D SDHAF1 GRM7 SRP54 TDGF1 SMARCC2 BAAT GJB3 CHRM3 SDHC DHDDS PEX3 NEXMIF MTR NADK2 SLC19A3 TGIF1 DCLRE1C SMAD4 PALB2 GTF2IRD1 NEUROD2 SLC25A15 NUS1 KCNA2 MAX PDX1 SLC39A4 ADAT3 CDC45 SMC3 STAG1 CUL4B STAT4 THRB FBN1 ITGB4 GBA PROKR2 TCOF1 BANF1 ALOX12B NDUFS2 FBN2 AGTR2 KDM6A MAD2L2 SZT2 TACO1 ALG13 RFWD3 FANCE COL12A1 TLR4 ERCC8 ETHE1 PEX19 CYP17A1 PREPL ERCC6 FANCA SCN1B AIMP1 PEX16 CTBP1 IFNG PWRN1 BRCA2 ADAT3 CHRNA3 MPL C4A ACSF3 RAG1 CAMKMT SMPD1 NDUFA13 KANSL1 ALG8 ELN PCCB SLC9A7 SETBP1 POLA1 MSMO1 TET2 STAMBP NKX2-1 SLC17A5 TUBB4A PNKP DDX3X POLR2A SLC46A1 ALG9 MCEE TBL2 IL10 SLC7A7 MED12 CDKN2B WT1 JAK3 PEX10 ZNF81 PEX5 RPS28 DYNC2I1 PRDM16 DUSP6 COL6A2 CYP2R1 CIITA GBA CRIPT DPYD DISP1 CDC45 DKC1 KCNA2 GALE TRIO NDUFA10 PROKR2 SLC25A22 PEX5 GNPTAB LIMK1 CNKSR2 FGFR1 HLA-DRB1 USP27X HBB COX15 MMADHC FANCI SALL1 NOTCH2 TGFB1 NSD2 ZIC3 FDXR DAXX POMC EXOSC9 DYNC2LI1 SYNJ1 BMP4 EXT1 MAP3K20 HLA-DPB1 PIEZO2 SLC25A24 GPC1 AUH NFASC OCRL GPR35 ORC1 PTF1A HBA1 STAT5B FBXW11 NAT8L ASXL3 FCGR2A PRKCD SPATA5 SDHC ATP8B1 CTLA4 CXORF56 NDUFAF4 KCNJ6 FOXH1 MECP2 GABRA2 TCF4 LMBRD1 CD244 STT3A PET100 TRAK1 CDT1 MUSK CYP11B2 HERC2 ATP6V0A2 TRAK1 PQBP1 GAS1 ERCC4 BCS1L AUTS2 HIBCH KCNJ1 TRNH NEB PTPN22 DNMT3A MRAP SLC46A1 COL6A3 ERCC3 NDUFV2 CDH23 COL12A1 RPL15 RNF13 MIPEP NODAL NUP214 RTEL1 HPD RPS15A NAGS KMT2A IL2RB ERCC4 DISP1 RBM10 UQCRFS1 NDUFV1 PEX1 AP1B1 CYP2R1 ST3GAL5 ACTA1 VHL BLM ACTA1 CD40LG RPS27 PCNT PDX1 SLC6A8 PTEN PLP1 MPV17 PTF1A COX14 KISS1R THPO TDGF1 PPP2R3C HPD KIF7 AQP2 MPDU1 GDI1 NDUFA13 CYTB PEX5 C12ORF65 FGF8 LAMC2 CYB5R3 PDHA1 HBA2 FLNA SNAP29 ERCC2 PPP3CA HSD11B2 NEB IL6 WDR73 GJB4 MDH2 NIPBL CYB5A SNORD115-1 ACO2 ACADS MTRR PEX2 PGM3 IL7R STAG2 DNM1 TP63 NF1 SMAD4 SON PIK3CA VPS37A HLA-B SPINK5 MC2R PLAA TIMMDC1 BCS1L TRMT1 SLC39A13 IGH GRIA3 TTC37 SC5D TOP3A RFX5 LMNA PALB2 SURF1 ARV1 DCLRE1C SDHD DCTN1 PEX6 RRM2B TPM2 REST ZIC2 CTCF SLC2A3 GTPBP3 EFL1 ECE1 PIK3R1 NDUFAF3 PEX16 NDN FOXP3 FANCB KCNJ18 HADHA AKT1 SCNN1G UMPS ACADVL TRAPPC4 PTCH1 LEMD3 EMG1 GLI2 EPCAM CYP11B2 IL23R RBBP8 COL1A2 SLC25A4 XPC SNRPN RBM10 AK2 DNMT3A PRNP STT3A TUBB4A KRAS CD3G TASP1 CBS ACAT1 NDUFB3 RPL5 SLC39A4 KAT6B NDUFB8 USP8 MRPS7 RTTN CDK19 PEX10 SELENON COG1 COG4 RREB1 RTTN INS RAD51C MLX ABCC8 TBX1 JAK2 CNTN1 AHCY CASK RFXAP KRT1 GK KIAA0586 GPIHBP1 PTEN PTRH2 ZSWIM6 ATM COX20 BRCA1 KLHL41 STAG2 MED13 MRPS16 ERCC2 SMAD4 ND1 PNPO SCN2A RPS7 FAM111A WDR4 PTRH2 NDUFS3 PEX7 NDUFAF2 ACTL6B FAM111A BRIP1 LBR PTPN11 GDNF IGLL1 OTUD6B RIN2 FLNA FAH RAI1 HIKESHI CERS3 MYT1L CD3E EPCAM ATP6V1A CDC6 BCOR LARP7 DGUOK NFIX PSMD12 BCL10 RNF168 HLCS UBA5 ATM MMAB POLG2 ACAD9 SLC12A3 CLTCL1 SLC25A3 PKP1 TGIF1 ADA ARID1B PSMD12 UBR1 POLG2 SPRY4 IKZF1 UBE2T SUCLG1 CDC6 VPS51 HCCS CARS1 HMGA2 THOC2 INSR SKI RPS20 STAT3 RUNX1 KCNA1 CD3D RPS24 WT1 BPTF NDUFS2 RPL35 RPS17 SSR4 SDHA COMT ASAH1 NEB MED12 SBDS NDUFB3 MYH3 MVK LAMB3 PCSK1 MBTPS1 SLC25A15 ACTB PTCH1 UBA5 FOXH1 TP53 SNX10 TGFB1 HADH MBTPS2 FLII RYR1 MDH2 ARPC1B CDKL5 SP110 VPS13B EBP NDUFAF5 FANCA PMM2 NLRP1 ALPL ELMO2 STAT3 PEX26 RPL31 DLL1 DYRK1A SHH EP300 ITGA7 HSPG2 AARS2 MSH6 TALDO1 FGFR1 SIN3A IRF2BP2 SMARCA2 HLA-DQB1 SRP54 ATP7B ERCC3 OTC DHCR24 RMRP MICOS13 ATP6V1A PQBP1 KCNJ11 DPP6 ACTB DOCK6 CENPJ BCAP31 DLL1 CCR1 SAR1B COX4I2 HIRA TNFSF12 PIK3R1 EPHX1 NHLRC2 TGFB1 LIPA SSR4 ARX PYCR2 DACT1 HLA-DRB1 PYCR1 KCNA4 IGF1R CA12 ZIC2 NONO DPM2 MID2 NABP1 NUMA1 ZNF41 POLG DLL4 COL7A1 NUP62 DDB2 IGF1 SIX3 ACTL6B CYP27B1 GATA4 LAMA3 TIMM50 GNPAT DGAT1 ALG3 AVPR2 STRADA EGFR PNPT1 TPM2 PTEN MTRR MTO1 SLX4 ACTA1 HCFC1 TRIP13 CDC73 BIRC3 ELN CFTR SCNN1A DIS3L2 TRNL1 KIF1B RYR1 JMJD1C IARS1 ARMC5 IKBKB ZMIZ1 CREBBP ADA RAG1 COX2 BRCA2 SIX3 SDHA AHDC1 ORC1 GTF2I ABCB11 MCCC1 FGF8 ACTG1 ATP6 MGAT2 IGHM ERCC4 TCF4 GATA1 PEX2 SCN3A OTUD6B COQ7 MPI CALR MMAA CYP11B2 RET PEX2 TET2 SETBP1 SCNN1A ASL EPG5 POLR1C CYFIP2 NDUFAF5 PEX13 RPL35A RET SHH TBL1XR1 MECP2 ND6 DDX6 ERCC1 HLA-B TRMT10C SLC25A24 B3GLCT ATP6V1E1 ITCH RBCK1 TWNK PDX1 NDUFAF3 SLC2A2 NDUFS4 ARHGEF6 EXT2 LIPT1 FH GRIN2A RBBP8 TRNS1 NCAPG2 YY1 RAG2 MAP2K1 PRKACA MECP2 FGFR1 PLAGL1 SNCA STAR CREBBP TBX4 CDT1 RFXANK EVC2 GABRA3 RARB HBB ABCA3 DALRD3 FMR1 GATA6 CASK ND4 TMEM126B NDP GBA NDUFAF1 F5 TSPAN7 GRIN2D HLA-DQB1 G6PC3 MS4A1 LTC4S TCIRG1 BCAP31 TRAIP PUS3 CTNS SLC3A1 RAG1 VAC14 AUTS2 FANCD2 BCL2 TBL1XR1 NDUFS7 SCNN1B B3GALT6 PRKAR1A CNTNAP2 JAK3 PCGF2 LIG4 BCL6 SLC1A2 TRMT1 PTCH1 CA2 GMNN NDUFS3 CNTNAP1 ROBO1 ERCC6 GPT2 BTNL2 SMOC1 PLEC NDUFA9 RPS29 MECP2 ND2 TYMP MARS1 PTCHD1 FIG4 MAFB NUBPL PYCR2 MAP3K7 ADA FARSB IRF6 PACS1 TAC3 NFKBIL1 PEX14 TNFSF12 IGHM ABCA12 RASGRP1 COX15 SLC12A3 RPS26 HS6ST1 RBPJ TRMT5 MLH1 ZBTB16 NALCN INS MC2R AGPAT2 PNPO GIGYF2 CD79A FOS HSD3B7 DYRK1A IL12A-AS1 RECQL4 PAM16 CYB5A CDKN1B SDHA DNM1L WDR4 PAK3 MYH3 SDHB DNMT3B GNB1 NACC1 NDUFV1 SCO2 MSX1 CD96 AMPD2 CLIP2 PYGL GLI1 TACR3 FANCF POR TRAIP BAZ1B GYS2 METTL5 ZFP57 TPM3 DNAJC3 STOX1 ICOS DCTN1 SIX3 JAGN1 XRCC2 TTN TMEM70 CDKN2C FGF12 COPB2 GRIN2D KISS1 POU6F2 MYH3 SLC39A8 ALOXE3 ATXN7 ABCC8 CDON ASXL1 B2M KMT2A PDHA1 MAGEL2 INSR IGF2 PARS2 BLNK JPH3 CSF2RA CORIN MYT1L RAG2 NDUFS8 MYPN ZIC2 HACD1 FOXRED1 AHCY TLL1 NSMCE3 NONO HADHB CLMP CLCN4 COL6A2 MYMK NDUFB10 VPS35 COG1 NDUFS4 HUWE1 NOD2 TP53 ACTA1 FANCF GABRD BRCA1 SLC22A4 KCNAB2 CRLF1 SGO1 USF3 GCK ACOX1 NOTCH1 H19 TRIM37 AMACR ND5 PTCH1 LAMB3 FOXRED1 CR2 HRAS RFXANK SDHD IL2RG MEFV NDUFB11 DSP SHH HSD3B7 FIG4 ASXL1 ERCC4 GLI2 SRSF2 GATA6 FUT8 UNC80 NDUFV2 TBX1 RFX5 SUGCT FAS NSMF BMPR1A CCNQ ATR EXOSC8 FGD1 COG6 CBL GNRH1 YWHAG COG8 MRPL12 RAI1 MALT1 SIK1 TSHR CNKSR2 SEMA4A MMACHC SLC12A1 TMPRSS15 IPW VPS13A NGLY1 TMEM126B COG8 KRT16 TRNW BCORL1 PEX5 KCNJ11 TWIST2 ACVR1 ITCH YARS2 NPM1 FOXP1 ND6 EIF2S3 FGFRL1 IL1RAPL1 RFXAP CUL7 PML ND2 POLG IL12B CREBBP NDUFAF2 CREB3L1 NADK2 PUS7 PTPRC RPS10 NODAL INTU ADAM17 ATP6 ERCC6 CACNA1S NDUFB9 RFT1 CHD7 GTF2E2 SKIV2L KIF1B VHL IQSEC2 ANOS1 PMS2 ACD HSD11B2 COA8 MCCC2 GALT SLC26A3 ZEB2 TANC2 EFL1 RNF13 ARFGEF2 GNAO1 PPP1R15B ABCC8 SDHB
Protein Mutations 0
SNP 0
HP:0001824: Weight loss
Genes 331
MLH1 ZBTB16 NALCN AVP PADI4 MC2R AK2 HLA-DQA1 PRNP GIGYF2 KLRC4 CCND1 LPIN2 IL12A-AS1 NABP1 DNAJC13 NUMA1 POLG ACAT1 HLA-DRB1 PRNP CDKN1B MEN1 RHBDF2 SDHAF2 SLC39A4 SDHD WT1 TYMP SNCA GATA4 FANCI CFTR SDHB RET HLA-B SUCLA2 DAXX CCND1 BMPR1A RAD51C MLX HLA-DPB1 COL6A1 KRT10 PMS1 PTEN EDNRB KRAS SLX4 JAK2 TSHR FANCF TRPV4 ATRX TRIP13 CDC73 CACNA1S KRT1 FH BIRC3 PTEN SCNN1A RB1 DIS3L2 TRAIP KCNJ18 SDHD GPR35 JAK2 FANCD2 GBA KIF1B RAD51 JAK2 PLK4 STAT5B ERCC4 GATA2 DCTN1 ERCC2 BRCA2 TXNRD2 SDHA TP53 ERCC5 EIF2AK3 SEMA3C XRCC2 TET2 AKT1 SMAD4 MLH3 CDKN2C SDHC FAN1 FANCL CDKN2A CTLA4 SCNN1G POU6F2 MSH2 HLA-DRB1 TCF4 EWSR1 CD244 RET BRIP1 FLI1 ASXL1 TRIM28 SDHB JPH3 GDNF ATRIP B2M CEP152 ERCC4 KDSR FIP1L1 GALT TMEM127 PTPN22 INS EDN3 DNMT3A JPH3 CALR MRAP CHEK2 COL6A3 TTR TET2 CDH23 SCNN1A IGH LRRK2 PRNP EPCAM HLA-DRB1 IGH IL10 BCOR SLC6A8 NBN SLC25A11 RARA RET BCL10 FANCE RNF168 ERCC4 VPS35 MECP2 HLCS ACADM NOD2 HLA-B EIF4G1 TP53 PANK2 ATM BRCA1 VHL SLC22A4 CRLF1 PCNT FANCM POLG GCK PTEN FOXP3 FANCC PSAP H19 TRIM37 THPO TGFBR2 IKZF1 SDHAF1 UBE2T GJA1 MEFV STAT6 HTT GJB3 SNCA GPC3 STAR RPS20 SDHC STAT3 PALLD SRSF2 NOD2 BRCA2 RUNX1 IL6 SLC9A6 GALC GJB4 WT1 GABRA3 RRM2B GNPTAB MDH2 FANCG SDHA UNC80 NDP BRCA1 PALB2 MPL F5 FAS BMPR1A HLA-DQB1 ATR UBAC2 MAX CBL PDX1 LMNA NF1 TP53 MST1 PIK3CA CUL4B STAT4 TGFB1 DLST MALT1 HLA-B TSHR TP53 SEMA4A CENPE FOXP1 VPS13A FANCA IGH BCL2 TBL1XR1 MAD2L2 MPL SCNN1B SLC11A1 KRAS LMNA RFWD3 STAT3 PALB2 COL12A1 TLR4 SDHD DCTN1 HTT BCL6 LRP12 RRM2B JAK2 NOS1 PRKAR1A ERAP1 REST HSPG2 NPM1 MSH6 NAB2 BRCA2 SLC2A3 CNTNAP1 HMGCL IRF2BP2 ECE1 SDHB MPL HLA-DQB1 PIK3R1 C4A PML PRTN3 BTK IL12B ATP7B ERCC3 BTNL2 SDHD TET2 PTPN22 CYP24A1 FANCB EPAS1 TYMP ZMPSTE24 KCNJ18 IL12A SCNN1B TRIM28 PLA2G6 NNT SCNN1G POLG KCNJ11 CDKN1A MAFB CENPJ IL10 CACNA1S CCR1 CDKN2B WT1 KIF1B HAVCR2 VHL PMS2 IL23R HLA-DPA1 NFKBIL1 LIPA IFNGR1 RBBP8 COL6A2 NRTN SEMA3D CIITA HLA-DRB1 UNC80 ABCC8 PTPN22 SDHB
Protein Mutations 2
I148M P12A