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) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (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) NCT02725567 (10) NCT01614470 (10) NCT01423812 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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) NCT04625647 (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) NCT03058094 (3) NCT01282151 (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) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (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) NCT00969137 (2) NCT00834665 (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) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (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) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (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) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (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) NCT04657289 (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) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (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) NCT04645225 (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) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (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) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (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) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) 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) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (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) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02133144

Developed by Shray Alag, 2020-2021.
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 1864
RPS7 TRNK TRAIP MAGEL2 SIX2 B3GLCT TOP3A NDUFS4 DOLK SCNN1G CD247 CNKSR2 ATP6V1A PSAT1 ARVCF RPS15A ND1 RELB RREB1 PTF1A MALT1 OCA2 LETM1 DEGS1 ELMO2 ERMARD PEX11B SPATA5 KRT10 TERT AARS1 AGPS ZAP70 ZIC3 POLG CDC45 DMD FOXH1 LAMB3 COL1A2 BRIP1 SGO1 ABCC8 VPS13B PIK3R1 HSD3B7 BRAF PNPO SEC24C ERCC1 PIK3CA HCN1 NUP62 PEX13 ATP5F1A FANCG NDUFV2 INS EVC2 MCCC2 GPT2 DLST ATP6V0A2 MDH2 TPM2 MCEE COL6A1 DNMT3A SIN3A THPO CRLF1 KRAS VPS45 KMT2A CLCNKA SLC25A24 VPS13B KRT14 TPM2 PLAGL1 FOXP1 DALRD3 GK CD79A RRM2B MTO1 IGF2 ATP6V1E1 PEX19 MAP2K2 CR2 PPP1R15B SDHA CNOT1 ACTL6B SNORD115-1 MADD FANCL NDUFB11 CPLX1 KCNB1 ALOXE3 MKRN3-AS1 PRKAR1A ACADVL FAN1 COX10 TET2 RFX5 SEMA3D HRAS GJA1 NGLY1 GLI2 PCSK1 AGPAT2 KIAA0753 PREPL SCO2 PUF60 FANCF PWRN1 WDR11 ND4 RPS19 PNKP IGF2 DLL4 MBTPS2 DISP1 SIX3 PEX7 TRNN SLC19A3 LHX4 SCO1 BTK MSH6 PEX13 SLC39A4 GK NDUFB11 TTN RET RBCK1 ZIC2 TIMM22 WDFY3 PSMB9 CSF2RA UMPS SMAD4 ERCC2 LAMA2 GABRA2 FGF8 GCK TCOF1 SHH CNTNAP1 SLC22A5 SYNGAP1 HACD1 CREBBP OCA2 NODAL NOTCH2 SKI MRPS14 SLC9A6 RAD21 SMARCA2 CLMP ADAT3 ECHS1 DLL1 RFXAP CASK TCTN3 PTPN22 SLC6A8 FGF12 TRNS2 CKAP2L NLRP1 TIMMDC1 PPM1B IL10 COG4 MARS1 SIK1 ETHE1 SSR4 RPS19 CDKN1C TBC1D23 IL12A-AS1 CIT TYMP CDKN1B SLC13A5 CYP2R1 LPIN2 FGFR1 CENPE NDUFS4 TACO1 FDFT1 JPH3 IRF6 CNKSR2 CARS1 IL21R SAR1B GDNF USP9X PEX1 TCF20 EXOSC9 CYB5A GALC DDOST CUL4B AUTS2 DYNC2LI1 EWSR1 VHL POU6F2 EBP PMM2 SIGMAR1 FBN2 FBN1 CNTNAP2 NDN RAG2 PEX5 SPOP PGM3 FANCE MPL MYOD1 NDUFS6 TSHR EDN3 XPA BCAP31 WWOX SYNJ1 STT3A HCCS GBA PARN NDP PPP1R15B PSMD12 DCTN1 LAMC2 RAG2 SLC9A6 GNPAT DCLRE1C FANCC SNCA PYGL PDHX CAMKMT HPD MED12 AMACR MCCC1 TWNK STAT5B CYP11B2 CD3D RIT1 IL2RB CACNA1S GLI2 RNU4ATAC MGAT2 NRTN COL6A3 TASP1 TIMM50 PMS1 IL7R BRCA2 TTC37 MLX AVP MCTP2 IGLL1 FGFR1 TK2 MAGEL2 SYP PLA2G6 TPM3 SYNE1 COL12A1 PEX16 PCNT IQSEC2 SDHB MUSK HYMAI BRCA1 BUB1B INSR NDUFA1 COL1A1 RPS6KA3 PTPRC NPHS1 SLC6A8 FOXH1 CPS1 NDUFA2 PRKAR1A GPIHBP1 FGD1 SNX10 COX3 COG8 NDUFV2 LRRK2 USF3 GNPTAB TFAM HADHB MTTP H19 NBN LARP7 STRA6 NUP188 NDUFAF3 NDUFAF2 CRIPT FANCB CD3D UNC80 PEX2 PEX10 PUS7 CLCNKB PIGB TAF13 SLC25A13 HMGA2 TCN2 SLC2A2 UBTF RPL31 AQP2 WDR26 UBA1 ABCC8 TP53 BRCA2 PALB2 BSND GAS1 NDUFAF2 SAMD9 PSAP ERCC5 STAT3 KBTBD13 ARMC5 PLAG1 JAK2 NFKB1 IL1RN TMEM126B ACADM TRAK1 RYR1 FUT8 PEX12 ALOX12B MDH2 HADHA NFKB2 HIBCH SLC34A3 TGIF1 SELENON IGF2 EMG1 DKC1 TDGF1 PRKACA KRT6A ALB NFASC POLG PEX5 CDC73 TSR2 POLR1A CTNS SIX3 PML GTF2E2 POLR1C KRT6B FH FOS RBM10 ORC1 BMPR1A DPM1 NAT8L MYH3 NFKB2 HSD3B7 VHL ALDH18A1 PEX11B TRIM37 SDHD TLL1 SLC12A1 PPARG DCLRE1C SCNN1A MCM9 GPC3 DCTN1 ALG9 CYP11B2 NOD2 KRAS CYP27B1 LTC4S NTNG1 IL2RG IL7R SLC17A5 SDHB SMPD1 GATM JPH3 NODAL SPRTN NR1H4 SEMA3C NONO NALCN PSMB4 NOS1 UBR1 ND6 PEX6 ARHGAP31 MS4A1 NODAL COX20 POLA1 VPS35 DHCR7 ZNF711 NECAP1 CASP8 CAVIN1 TACR3 SDHD ASXL1 IFNG ARX RRM2B EIF2S3 JAK3 ZNF335 ATP6V1E1 ATM CTBP1 KCNJ6 HADHA MEGF10 ARX HUWE1 ACTA1 TP53 IGF2 NAB2 FGF8 PEX13 GAS1 BMP4 CHEK2 CPLANE1 ELN FANCD2 RAG1 MYT1L PIK3R1 GP1BB NFU1 PMM2 TPM2 DLL1 TXNRD2 CCNQ RB1 PTEN PDHB CLTC NDUFAF5 ORC4 NOTCH1 PMS2 ABCA12 RPL27 SEC23B CDON ADAR TCF3 SLC3A1 GDI1 CA2 RBBP8 PTCHD1 SDHAF1 STAT5B CREBBP TBL1XR1 NPAP1 SOX9 SLC7A7 BCS1L SCN3A DOCK6 TWIST2 BCL2 DIS3L2 KRAS PHOX2B CDK19 NDUFB8 KMT2E BANF1 FANCD2 HPD IFIH1 IL7R PUS3 CIITA ZIC2 G6PC3 NDUFB10 DNAJC21 PEX26 DISP1 IL2RA DNA2 PEX19 NCAPG2 FOXH1 YWHAG PNP BAAT MRPL3 PRTN3 SP110 MED13 TRNS1 FZD4 DNMT3A ACD SKIV2L NADK2 FANCI GRIA4 ZAP70 ALDOB ZNF81 ND2 SMARCC2 ND5 BRCA1 RPS6KA3 FGFRL1 USP8 GCDH LMNA ALS2 CDK10 PEX3 INSR OTC CDC45 C4A ACO2 TRNQ DNAJC21 ZMPSTE24 RAI1 VPS37A MECP2 SNRPN SON RAB33B SBDS PNPLA6 CYP7B1 PEX1 SLC25A15 CHRM3 DMXL2 EPRS1 GRIN2D TP53 PLK4 BCL10 PRF1 RAG2 JAK2 CD40LG MSH2 TRMT10C MMACHC KIAA0586 HADHB SDHB AMER1 KIF7 MYH3 PTPN22 FOXP3 CEP57 AKT1 TRNF THOC2 NUS1 RAG1 SARS1 STAT6 KANSL1 HAVCR2 HMGCL PEX16 SLC4A1 TBL1XR1 IL2RG DNM1 SDHB ZFP57 CARS2 PLAA OFD1 KLHL7 CDON LRRC8A RPL26 COG1 LRP5 RMRP ACTG1 NNT OTUD6B EARS2 KDM6A STRADA ANAPC1 PWAR1 TCF4 CTCF ERCC4 SCN8A ASNS FAM111A FBN1 SCNN1A ACTA1 PEX16 NIPBL SMAD4 POMP LIPT1 TRNL1 FGFR1 CHD7 PTPN22 TBR1 NNT SRP54 SPRY4 CDKN2C NDUFA10 TGDS CCDC47 ND2 ADAT3 RPS17 KIF7 SCNN1A PRNP B3GALT6 TP53 YARS2 PDE11A CREBBP NDUFS7 PDE6D ATP6V1A TBX1 XYLT2 TNFSF12 UBE3B EPCAM MECP2 IL10 ABL1 PIK3CA NDUFS8 COPB2 GCK EHMT1 PDX1 CTNS SDHD STRADA NDUFAF5 NDUFB11 FOXP1 FUCA1 BCOR SDHB NDUFS1 PPP2R3C NSD2 CYP2R1 FH ARFGEF2 KISS1 TRAIP PEX5 PDHA1 SFTPC B3GALT6 ATP6V1A ERCC4 NADK2 CSF2RB MPL ARV1 ABCA3 FAM149B1 CCND1 ASL FCGR2A AVPR2 NEUROD2 TRIM28 ZNF41 SSR4 ALG8 CD79A PIK3R1 PIGP DDX3X TRNS1 KDSR STEEP1 SCNN1G ASXL3 MAP2K1 MKKS ECE1 RNF13 ESR2 SAR1B SC5D SUCLA2 GBA IL23R COX2 RTL1 TRAK1 PEX12 HADH RASGRP1 FGF8 SNRPN EPHX1 GBE1 NDP STT3B TCF4 TIMMDC1 LMNA TCTN3 SDHD HIKESHI SLC25A13 TDGF1 SLC5A1 GIGYF2 LRPPRC GJB3 ACOX1 SDHA PPP3CA PEX26 GNB1 DYRK1A NDUFS1 MYH7 NSMCE3 PTEN TGIF1 PCLO KRAS GTF2I SCN2A ATP6V0A4 CYFIP2 KCNA2 TMEM127 FTO KCNJ11 JAGN1 CIITA GMNN SETD5 ZSWIM6 CSPP1 CCR1 PLEC NFIX GPR161 DYRK1A ELAC2 EFL1 PNPLA1 HMGA2 FAS UPF3B MBTPS1 SLC10A2 RAD51 ANTXR2 DHDDS AARS2 TSHR OTUD6B POMC TGFB1 NDUFA9 HCFC1 MMUT XRCC2 COL6A3 ERAP1 ERCC6 FARSB JAK2 SLC3A1 OBSL1 GBA SLC25A22 LETM1 COX4I1 SLC25A3 TBX4 HERC2 RFWD3 IGF2 KLRC4 PREPL DLK1 MLXIPL VIPAS39 IQSEC2 HLA-DRB1 MPL ALG12 AK2 ANOS1 NKX2-1 GNAO1 TMPRSS15 GPR35 BAZ1B CIITA TRAPPC4 MED12 CDKN1A WT1 GRIA3 MIPEP NDUFB3 PEX1 ARHGEF6 BRCA2 RNU4ATAC ERCC2 TGFB3 LAMA3 KCNAB2 FGF17 CTNS COL6A1 TRIO SPR ERCC5 NFKBIL1 PYGL ADAM17 DISP1 ANKLE2 UBE3B SLC26A3 ACSF3 CYP11B2 UBR1 EEF1A2 PET100 LMNA PROK2 KCNA1 NFE2L2 PEX3 HSPG2 LCK ACTB IARS1 ERCC6 MAGEL2 SLC25A13 NDUFAF4 GTF2IRD1 CAVIN1 SLC9A7 CHD7 FRMPD4 NHLRC2 NGLY1 STAG1 FANCM NOTCH2 PACS1 NELFA FDXR KCNJ11 GLI1 STXBP1 TGM1 ASS1 EXT1 TCF4 AIMP1 HLA-DPA1 KRT16 SETBP1 PIEZO2 GPC1 EBP SIM1 GNPTAB TJP2 NACC1 SDHA CDC6 HBA1 PHGDH RARA ACTL6B ATP6V0A2 STT3B CD81 POLG2 FIG4 NR0B1 MTHFR CD96 ERCC8 HLA-DPB1 DLD TERT PEX2 FOXH1 CLCN4 GABRA5 SURF1 BRF1 SLC22A4 MECP2 COL12A1 SERAC1 ALAD FGFR1 TRMT10A LMBRD1 SLC1A2 PQBP1 PTRH2 KMT2A GAS1 DLK1 GJA1 GMNN ACTB TRNW NEB CTLA4 EPAS1 MRAP COL6A2 ERCC3 CBS SNCA COG8 CDH23 LIG4 BLM PPP3CA CDON TINF2 ADA2 KCNJ1 RAG1 VPS51 ERCC2 DISP1 NDUFAF6 FLNA FAH CYP27B1 GALC MAP3K20 NF1 SIL1 DNMT3B RPL35 SDHAF2 CENPJ NAGS RTTN TCIRG1 CALR GNRHR TDGF1 TAPT1 TMEM216 FTSJ1 RFT1 COX15 SDHD SLC35A2 FGF8 CDC6 FLI1 DPYD HBA2 ERCC2 SDHC WDR4 CFTR TFRC GJB4 KIF1B ROBO1 GTPBP2 KMT2A MTRR CYB5R3 ORC4 DNM2 IPW ASCL1 ATXN7 GATA6 KCNJ18 AUH RMRP STAG2 UQCRFS1 KCNA2 MAX BMPR1A RYR1 IGHM HTT SLC25A15 NEUROG3 UNC80 MEFV SUCLA2 PALLD PTDSS1 NDUFAF8 MSX1 AHCY ATPAF2 FANCC POLR3A BCL6 SKIV2L PADI4 CA12 ALG3 CASK FANCI FAM111A NDUFS2 SDHC NDUFS1 HBB UBA5 MMAA CNTN1 PEX6 SELENON TRIM28 ZIC2 HTT SBDS RET CPLANE1 CYP11A1 KDM6A NDUFS2 DHDDS TUBB4A PEX14 CYP19A1 ZFP57 MAGEL2 ETHE1 FANCA NSDHL GABRA3 KLLN SCNN1B CSF2RA FBXW11 PTCH1 EPG5 GLI2 LBR PPP1CB ARID1B BCOR IL12A CEP152 MMUT CLDN16 POLG2 ALG11 XPC PMPCB MKRN3 CD96 MYH7 JAK3 DNAJC21 MPI BRAF RHBDF2 WRN TGFB1 LYRM7 NDUFB9 RPS26 SLC39A4 PROKR2 POLE CDH23 SFTPB FANCF THRB CACNA1A PEX10 SLC46A1 JAK1 RAI1 JMJD1C PALB2 GALT SHROOM4 NRXN1 IL12B COQ7 OCLN UFC1 TBX1 STAMBP COX4I2 RFXANK PEX12 KAT6B KRT1 B2M CORIN TIMM50 NR3C2 PLAA MADD KLHL41 LIMK1 PEPD MYT1L RPL5 HMGA2 GTPBP3 CNOT1 NDUFAF1 ERCC3 EP300 CDKN2A NDUFA6 MCCC1 DCLRE1C CDKL5 RPS10 POLG NDUFS2 MAP3K7 VAC14 ND3 RBBP8 BPTF SIN3A GNB1 BRCA2 NSUN2 BRAF EDNRB IGHM SLC39A8 PYCR1 PNPO DEAF1 NSDHL KRT5 PSMD12 CD3E INTU MLH1 CENPJ STAT3 BPTF TYMP ORC6 CUL7 RNF168 CD3G RARS2 LONP1 TMEM126B GRIN2D ARCN1 SUCLG1 ACAD9 HESX1 AMPD2 IGH POLG LPIN2 SLC12A3 GYS2 TGIF1 ADA SETBP1 DUSP6 MBL2 ZMIZ1 HLA-B SLX4 CYP17A1 MPDU1 CDT1 GOT2 RECQL4 ATP6V0A2 LEMD3 GABRD TSHR ITCH SEMA4A IRF2BP2 TRMT5 EHMT1 ASXL1 TRIM8 RPL5 RPS27 DOCK3 SURF1 RPS24 TRPV4 VPS33B RPL35A RET MC2R UFD1 ASAH1 HNRNPH2 UBE2T SRP54 GBA CHRNG CDT1 LAMB3 ERCC6 MMAB KANSL1 PTCH1 EIF2AK3 RECQL4 TDGF1 TALDO1 RAI1 HFE NDUFS2 LAT STXBP1 ZEB2 HLA-DQB1 SMC1A MAP2K1 ABCC8 PCCB NDUFAF4 ERCC4 OCRL SMC3 COG1 ARPC1B PDX1 PEX19 GATA1 DLL1 RBPJ MRPS7 SHH TPM3 H19-ICR SARS2 MTRR MYL2 HDAC8 MLH3 STAG2 TBL1XR1 ALG13 EFL1 AQP2 STT3A DNAJC3 KMT2C LIG4 ATP7B LRP12 SNAP29 SCN3A AHDC1 PQBP1 PLP1 ABCC8 FANCA DSP CYP7B1 ATR DLL1 COMT PRKCD BLNK AGTPBP1 WT1 LIPA RAG2 ADA ERCC4 RPS6KA3 SELENON AUTS2 CYTB SALL1 BTNL2 IGF1 GRIA3 CYP24A1 TGIF1 IGH ALG13 ACADS YY1AP1 NPM1 ATP6V0A2 ZBTB16 AGTR2 AHCY INSR COL7A1 MCM5 DDB2 CASK RTL1 SHH TUBB4A GABRG2 EGFR OSGEP LAMA3 IKZF1 ACSF3 YY1 HYMAI PIK3C2A AKT1 LMBRD1 AARS1 SCNN1B GALT GAA NEB PARN MRPS2 PNPT1 PTEN CASR RAB3GAP1 NDN RAD51C MPV17 GALE RAB39B PRDX1 REST TGFBR2 PRPS1 MTR IGH CLIP2 SCNN1B H19 TAZ IGF1R HIRA GNAS SVBP MEN1 COX1 HSD17B4 SIX3 FOXG1 PTF1A ELN MCCC2 GNRH1 CLCNKB PET100 ACTB FOXP3 ND4 IGHMBP2 PTS CBL SLC39A13 POLA1 TTR SON MAFB RPL11 GABRB2 PAM16 TET2 SPG11 HPDL PEX2 PCCA TTC37 DACT1 DAXX POLR1D NTRK2 KRT14 RPL15 SHH PKP1 TRNV TANC2 NUS1 SLC12A3 GHSR TRAC RNF13 OCRL IL21 SLC25A4 NDUFA11 NDUFS3 GBA TSPAN7 SLC35C1 HRAS C12ORF65 VPS13A EXT2 NOD2 NDUFA12 ADK GRIN2A TRNH RAG1 ORAI1 AGXT SNRPN TGFB1 PTPN11 PDE8B FGFR1 GATA2 IGF1 STAR MSMO1 TRMT1 ORC6 IFNGR1 SLC7A7 CACNA1S RARB GATA6 ND1 KMT2D WDR73 TKFC FOXRED1 LIPA MICOS13 ACAT1 TMEM216 STING1 PAK3 SUGCT FLNA DALRD3 HLA-DRB1 ZEB2 TNFRSF13C RPL18 AP1B1 CHRNA3 CCND1 KRT5 MRPS28 SLC2A3 PLP1 KIF15 ADA FIG4 MECP2 FLNA ND3 NUMA1 PDHA1 SCNN1G FBXL4 ASXL1 LARS1 F5 MED17 NSD2 HLA-DRB1 AP3B2 DDX6 KIF1B PTCH1 WNT2B ORC1 NDUFV1 FMR1 INS CYP11A1 ERCC4 CDON ST3GAL5 POLR3A GPT2 CCDC8 NDUFA13 BCORL1 SMOC1 NDUFA4 ATRX ACSL4 ND1 COG7 COG4 MID2 SLC34A1 HSD11B2 STAG2 ANOS1 NDUFAF3 PYCR2 HLA-DQA1 NACC1 RBM10 TP63 NUP214 FGF8 PDX1 GLYCTK CD244 PEX14 KANSL1 TNFSF12 NIPAL4 SLC11A1 NDUFS3 DGAT1 RPS28 NDN WDR11 SLC25A21 PANK2 MRPS16 C12ORF65 RAI1 NABP1 MC2R BSCL2 DPM2 NAGS BMP1 OCA2 MYMK PCGF2 FLCN DNAJC13 CAV1 BCAP31 DYRK1A RPS20 HLCS CYP17A1 NONO LAMC2 IL1RAPL1 NALCN ITCH ATM PTRH2 LYRM4 POLG NDUFS8 NDUFB8 IL6 RECQL4 NECTIN1 COL6A2 RAC2 JAK2 ATP8B1 TBL2 CFTR AKR1D1 EVC HERC1 DNM1L TAC3 METTL5 FANCE POC1A TGFB1 NEXMIF CSNK2A1 ATRIP MEG3 RFC2 GATA4 SNORD116-1 TMEM165 POLR2A NDUFAF5 RRM2B NEB TPM3 WDR4 FLT1 CD19 SURF1 EPCAM SIX3 SMARCD2 BRCA1 SELENON PSMB8 CDKN2B SZT2 HS6ST1 TRIP13 DNA2 MST1 CERS3 MRPL12 MMACHC CDON B4GALT7 SRSF2 NUP62 SMC1A FOXRED1 MEG3 AVPR2 MED12 CACNA1B COG6 CD79B LMNA PRDM16 STOX1 ASAH1 ACTL6A NDUFS7 MYPN ZIC2 ITGA7 NUBPL TRIT1 HADHA USP27X ACTA1 SPINK5 NDUFB3 EIF4G1 KCNJ6 SMAD4 DYNC2I1 ACTA1 HBB RERE MAD2L2 SKI HLA-DQB1 PLAG1 PIK3CA POR PGM3 ABCB11 EOGT WT1 PUS1 TRNW SMC1A SLC46A1 MTFMT ICOS PRNP RTTN RFX5 SDHC DCLRE1C SEC31A TLR4 COX7B PTCH1 IL2RG PRNP GLI2 PDHA1 OTULIN GAS1 TNFRSF13B TET2 NDUFA13 NDUFV1 RFXAP CARMIL2 CREB3L1 DPP6 MAGEL2 DGUOK STAT4 KISS1R PTEN H19 RUNX1 CYB5A RIPK1 NSMF MOGS UBA5 MYH3 UBAC2 MAP2K1 RIN2 BIRC3 SCN1B IKBKB PARS2 BMPR1A MMADHC NLRC4 KCNA4 NDN TMEM70 EXOSC8 DHCR24 SLC25A24 KRT17 ALPL AUH TRNL1 RET TRMT1 PEX5 SNRPN JAG1 ACVR1 FIP1L1 NDUFV2 ND5 NFIX CENPT WHCR DLG3 RFXANK ND6 HLA-B EP300 DDOST KCNJ18 MAGEL2 NDUFS4 AHDC1 HCFC1 HLA-DRB1 RPS29 NODAL GRM7 LRBA VDR ATP6 ERCC4 PYCR2 NDUFAF1 FUS RFT1 PROKR2 USP7 SLC25A11 RET FLII ATP6 DHCR24 RTEL1 HSD11B2 COA8 CLTCL1 KCNJ11 RLIM PIGQ ITGB4 INS HLA-B SDHA MVK
Protein Mutations 0
SNP 0
HP:0001824: Weight loss
Genes 337
NABP1 PTPN22 MC2R NOS1 LMNA DNAJC13 GALC IGH HSPG2 RPS20 NPM1 HLCS VPS35 ZBTB16 RHBDF2 CUL4B CDKN2C EWSR1 VHL SLC39A4 SDHD POU6F2 RRM2B SIGMAR1 FANCM SCNN1A IKZF1 PRNP AKT1 TP53 MALT1 KCNJ11 ATM IL6 MPL TCF4 PALB2 GALT IL12B TSHR HLA-DPA1 KRT10 EPCAM JAK2 EDN3 TP53 CFTR IL10 RAD51C NAB2 POLG FANCE GCK REST TGFBR2 KRT1 B2M TGFB1 SDHD GBA IGH SCNN1B CHEK2 H19 ATRIP DCTN1 BCOR SDHB GATA4 SLC9A6 FANCC SNCA TRAIP RARA BRIP1 PIK3R1 MEN1 ERCC3 TXNRD2 CACNA1S RB1 ERCC4 NRTN BRCA1 MPL PTEN CDKN2A PIK3CA PMS1 CDKN2B CCND1 FANCG BRCA2 HLA-DPB1 POLG MLX TRIP13 AVP PMS2 FOXP3 MST1 SLC22A4 CBL DLST COL12A1 BRCA2 TTR MAFB PLA2G6 SRSF2 TRIM28 DNMT3A EDNRB RBBP8 THPO PCNT SDHAF1 CRLF1 KDSR STAT5B SCNN1G SDHB CTLA4 ECE1 EPAS1 TET2 MRAP SPG11 COL6A2 SNCA CDH23 SUCLA2 GBA DAXX MLH1 BCL2 DIS3L2 FOXP1 KRAS IL23R STAT3 SLC6A8 PRKAR1A RRM2B TYMP FANCD2 RNF168 ERCC2 EIF4G1 LRRK2 SMAD4 GNPTAB IGH NDP NBN LPIN2 MAD2L2 NF1 SDHAF2 HLA-DQB1 CENPJ FANCL CALR FANCB WT1 UNC80 FAN1 PRTN3 TET2 VPS13A NOD2 HLA-B SEMA3D PRNP SDHD SLX4 SDHD GJA1 GIGYF2 TLR4 PRNP FLI1 GJB3 ABCC8 TP53 TSHR GATA2 SDHC BRCA2 STAR SEMA4A SDHA IRF2BP2 PALB2 TET2 IFNGR1 BRCA1 ASXL1 PSAP GJB4 CACNA1S KIF1B TRPV4 STAT3 FANCF RET PTEN LMNA ALS2 KCNJ18 UBE2T KRAS JAK2 ACAT1 STAT4 PTEN HLA-DRB1 ACADM C4A EIF2AK3 TMEM127 RUNX1 ZMPSTE24 MAX CCND1 CCR1 MDH2 HTT UBAC2 BTK SLC2A3 MSH6 HFE BIRC3 UNC80 MEFV TP53 BMPR1A PLK4 PALLD FAS MECP2 HLA-DQB1 BCL10 ERCC4 BCL6 NUMA1 PADI4 RAD51 JAK2 SCNN1G MSH2 F5 XRCC2 CNTNAP1 PDX1 FANCI COL6A3 ERAP1 SDHC POLG CDC73 JAK2 HLA-DRB1 PTPN22 KIF1B PML TRIM28 FIP1L1 MLH3 STAT6 RFWD3 HTT HAVCR2 HMGCL TBL1XR1 RET FH KLRC4 PTPN22 ERCC4 HLA-B KCNJ18 BMPR1A HLA-DRB1 SDHB MPL ATRX ATP7B AK2 IL10 FANCA VHL HLA-DRB1 LRP12 TRIM37 GABRA3 IL12A-AS1 SCNN1A GPC3 NNT SCNN1B TYMP CDKN1B DCTN1 ATR GPR35 CIITA HLA-DQA1 NOD2 CDKN1A CENPE FUS WT1 SLC25A11 RET JPH3 SDHB JPH3 IL12A WT1 CD244 LIPA CEP152 SLC11A1 COL6A1 GDNF ERCC5 SEMA3C NFKBIL1 BTNL2 NALCN INS HLA-B CYP24A1 PANK2 SDHA
Protein Mutations 2
I148M P12A