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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NCT01972529 (1) NCT01731704 (1) NCT04186377 (1) NCT01424475 (1) NCT02066636 (1) NCT01748149 (1) NCT02467270 (1) NCT02092909 (1) NCT02864251 (1) NCT03846427 (1) NCT03779191 (1) NCT00055848 (1) NCT01217437 (1) NCT04088734 (1) NCT03191786 (1) NCT01450319 (1) NCT03652090 (1) NCT00995553 (1) NCT01833572 (1) NCT00432900 (1) NCT03553563 (1) NCT01878006 (1) NCT03357627 (1) NCT03668431 (1) NCT03832257 (1) NCT02739243 (1) NCT01193881 (1) NCT02427620 (1) NCT03784599 (1) NCT02055976 (1) NCT02147990 (1) NCT01400074 (1) NCT01551030 (1) NCT00617708 (1) NCT00050180 (1) NCT00283387 (1) NCT03310541 (1) NCT00931944 (1) NCT02717455 (1) NCT02730884 (1) NCT00532792 (1) NCT04099836 (1) NCT02375022 (1) NCT02074696 (1) NCT03709706 (1) NCT00020787 (1) NCT01739231 (1) NCT04399551 (1) NCT02590952 (1) NCT02063971 (1) NCT04254419 (1) NCT01683175 (1) NCT03373370 (1) NCT00814073 (1) NCT02417740 (1) NCT03374215 (1) NCT02783300 (1) NCT03053219 (1) NCT01595425 (1) NCT04128878 (1) NCT01101438 (1) NCT00769067 (1) 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NCT00588263 (1) NCT01435655 (1) NCT03919071 (1) NCT00668421 (1) NCT03236675 (1) NCT03224208 (1) NCT01711632 (1) NCT02429791 (1) NCT03521596 (1) NCT02274012 (1) NCT03101813 (1) NCT00029627 (1) NCT03701815 (1) NCT03001609 (1) NCT01141829 (1) NCT04148898 (1) NCT00443612 (1) NCT02081378 (1) NCT00612898 (1) NCT03972943 (1) NCT02785952 (1) NCT00708929 (1) NCT03615443 (1) NCT03548220 (1) NCT01756118 (1) NCT03807778 (1) NCT00671138 (1) NCT00749853 (1) NCT01582997 (1) NCT00815321 (1) NCT01398644 (1) NCT03236610 (1) NCT03053297 (1) NCT02590588 (1) NCT02125357 (1) NCT00245986 (1) NCT04505956 (1) NCT01341743 (1) NCT01339442 (1) NCT02833194 (1) NCT02403193 (1) NCT02630212 (1) NCT00647946 (1) NCT02408887 (1) NCT04396860 (1) NCT01237522 (1) NCT02474355 (1) NCT01761968 (1) NCT03731260 (1) NCT02091141 (1) NCT04311034 (1) NCT01063933 (1) NCT03890198 (1) NCT01789060 (1) NCT03168074 (1) NCT03215706 (1) NCT03588273 (1) NCT02387957 (1) NCT01299337 (1) NCT03046992 (1) NCT04148066 (1) NCT00173446 (1) NCT02422719 (1) NCT02754362 (1) NCT03160105 (1) NCT01159145 (1) NCT02782403 (1) NCT02838420 (1) NCT00794885 (1) NCT04410796 (1) NCT04143607 (1) NCT04358562 (1) NCT04306926 (1) NCT01810965 (1) NCT00433862 (1) NCT00949702 (1) NCT01744171 (1) NCT02314143 (1) NCT02713880 (1) NCT02199613 (1) NCT00687518 (1) NCT02923986 (1) NCT04325698 (1) NCT01014546 (1) NCT04568239 (1) NCT01700582 (1) NCT00672035 (1) NCT03115164 (1) NCT01068327 (1) NCT00464113 (1) NCT01933347 (1) NCT03452592 (1) NCT01120964 (1) NCT02186301 (1) NCT01791309 (1) NCT00644878 (1) NCT02550990 (1) NCT02965378 (1) NCT03842969 (1) NCT03952052 (1) NCT04484142 (1) NCT01396408 (1) NCT01274091 (1) NCT02117336 (1) NCT02412943 (1) NCT04607421 (1) NCT01861223 (1) NCT00089297 (1) NCT00570583 (1) NCT01245556 (1) NCT02292732 (1) NCT03087071 (1) NCT02034110 (1) NCT03716908 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT00001721

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: 1. What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS? 2. Do patients with SLOS have other problems concerning the function of their endocrine systems? 3. What are the genetic make-ups of patients with SLOS? 4. Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?

NCT00001721 Smith Lemli Opitz Syndrome Mental Retardation Abnormalities Inborn Errors of Metabolism Muscle Hypotonia
MeSH:Cleft Palate Hypertelorism Intellectual Disability Muscle Hypotonia Hypospadias Metabolism, Inborn Errors Genetic Diseases, X-Linked Smith-Lemli-Opitz Syndrome Syndrome
HPO:Cleft palate Hypertelorism Intellectual disability Intellectual disability, profound Muscle flaccidity Muscular hypotonia Neonatal hypotonia


Primary Outcomes

Description: Stabilization

Measure: Neurocognitive testing

Time: yearly

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 R404C

One SLOS mutant allele (R404C) appears to be present in individuals of French Canadian and Creole heritage. --- R404C ---



HPO Nodes


HPO:
HP:0000175: Cleft palate
Genes 886
CDC45 TBX4 SMARCA4 RPS19 GRHL3 PROKR2 SLC25A22 DCC FGFR1 LMNA XYLT1 PSAT1 PIGO GP1BB COL2A1 FANCI HS6ST1 SLC25A19 NSD2 SEC24C CDH11 BMP4 NELFA YAP1 CHN1 IRF6 POLR1A TP63 FGF20 CCDC141 NSD2 PIEZO2 TRIP13 FEZF1 SOX2 RPS23 FOXH1 FOXC2 NID1 NECTIN1 NFASC TMEM67 ORC1 FOXC2 RAD51 ERCC4 COL11A2 SMARCD1 ASXL1 DVL3 HYLS1 DGCR8 SELENOI BMPER MED25 EIF4A3 SATB2 SMS FANCL RYR1 FOXH1 TUBB MUSK GNAI3 NEK1 FLNB PGAP2 PTCH1 TCOF1 BRAF GAS1 MAP2K1 STAG2 COL11A1 FLNA PROK2 TP63 PAX3 SEMA3E KIF7 FLNB SIX1 CRPPA TWIST1 RPL15 FGFR2 SPOP NODAL LETM1 FKBP14 RPS15A HESX1 KMT2A COL11A1 FAM149B1 DISP1 PHGDH RBM10 FGFR2 WNT3 RPL26 ARID2 SEC23A TBX15 DVL1 RPS27 ARNT2 FANCM SMAD4 KIF7 KISS1R TDGF1 KIF7 SLC2A10 NPHP1 SELENOI CYTB FTO GLI2 FGF8 ALX1 CPLANE1 FLNA PPP3CA LARGE1 NIPBL FANCG TBX6 COL11A1 ATN1 MYH3 RPS19 CASK PIGO WDR11 PEX2 CDON PLCB4 STAG2 SIX3 SON RB1 CHD7 ZIC2 FAM50A FOXE1 RIC1 TBX22 FGF8 POLR1D OFD1 SHH PALB2 DLX4 SON SIX5 TGFBR1 NODAL COL11A1 HAAO BUB1B ZIC2 SMC1A TBX22 CTCF ZIC2 GAS1 SLC35D1 STAC3 KCNJ2 GPC3 B9D2 SEPTIN9 FLNB TMEM231 ARX PIGN TBX1 CHRND NSMF TDGF1 COL2A1 DYRK1A FGFR2 BCOR SCARF2 SOX10 FANCB CHRNG PIGQ TSR2 COL11A2 RPL26 DISP1 WNT7A PTCH1 EFNB1 GMNN ALX1 GLI2 EDN1 TRPV4 RIPK4 NSUN2 TRRAP COLEC10 ZEB2 CHST14 ARCN1 SMAD3 DHODH DHCR7 RBM10 DPH1 BUB3 GJA1 LIG4 SPEG MASP1 IRF6 KRAS PTDSS1 SMCHD1 SH2B1 TMEM216 FOXA2 DGCR6 EDN1 PRRX1 COL11A1 HOXD13 B3GALT6 RPL5 TGFB3 KAT6B SLC39A13 COL4A1 TMEM237 GLI3 MSX2 MIR140 PIEZO2 MED25 ACBD5 TP63 IRF6 SMS RREB1 COL2A1 PROP1 SLC10A7 CEP57 B9D2 PQBP1 RAD51C FGFR1 OFD1 TBX1 SETD5 ESS2 CDH11 AMMECR1 ZMPSTE24 BMP4 FANCD2 STAG2 PIGV NUP88 CHSY1 MEOX1 TDGF1 ATR RUNX2 POLA1 RIPPLY2 SCN2A SOX9 RPS7 LOXL3 PIGL FKTN PEX7 SEMA3E WDPCP DDX59 GNRHR GLI3 FGFR1 FGFR1 BRIP1 PTCH1 LBR TBR1 GLI2 POMT1 RAD21 SLC18A3 MSX1 TAPT1 POLR1B PORCN FLNA FAM20C CENPF RAI1 ARID2 HDAC8 COL2A1 COL11A2 CTNND1 FOXH1 FOXP2 DVL3 SUMO1 TP63 COL11A1 ITGA8 GDF6 SOX3 TMEM216 CEP290 REV3L TGIF1 ARID1B SPRY4 FGFR2 FGF17 FANCC BCOR DHCR7 GDF6 PTCH1 UBE2T TCTN3 GRHL3 MUSK CDC6 PROK2 RPL27 CARS1 MID1 TGIF1 GAS1 KCNA1 WASHC5 INTU RPS24 INPP5E FKTN TFAP2A RPL35 RPS17 MKS1 ECEL1 COL2A1 COMT NEB MKS1 SHH MYH3 PIGV ATRX PIEZO2 NFIX DEAF1 PIGL PTCH1 SATB2 FOXH1 POLR1D PTPN11 FLNA FLII PIGW TGIF1 CDKL5 SMC3 CC2D2A EYA1 PROKR2 FANCA YAP1 TCTN3 SMARCC2 FGFR1 EARS2 HYLS1 TWIST1 FLNA TDGF1 MEIS2 RPL31 FLNB RPS26 DLL1 RPL18 DVL1 SHH TGIF1 CEP120 COL9A2 TGDS HSPG2 FOXE1 C2CD3 FGFR1 CHRNG SF3B4 BUB1 LFNG FGFR2 MEOX1 POMT2 DHCR24 ARID1B WDR26 MAPK1 WNT5A DHCR24 ACTB IRF6 B3GLCT DLL1 TUBB HIRA SLC26A2 COL2A1 RECQL4 FGFR1 COL2A1 COL11A2 DLL1 TELO2 TBCE TBX22 KDM6A RBM8A ZIC2 HES7 TCTN2 FOXH1 PIGP NOTCH2 NODAL ANKRD11 POMT2 WDR11 RNU4ATAC SMARCB1 COL11A1 SIX3 PQBP1 STXBP1 CDON KAT6A ALG3 EDNRA CPLX1 HNRNPK GNB1 DPF2 COL2A1 TP63 WDR35 SNRPB SLX4 SUFU HOXA2 FGF8 MSX2 DISP1 GAS1 GPC3 LARGE1 KMT2D TCTN3 PPP2R5D JMJD1C UFD1 LMNA DLL1 IRF6 SIX3 ORC1 TP63 ARID1A FGF8 RIPK4 EFTUD2 HSPG2 B3GALNT2 CHD7 HYAL1 ORC6 SOX4 ALX4 SETD5 NECTIN1 ACTG2 DHODH CDON DLX5 ALX3 TBX1 MBTPS2 GATA1 OTX2 DOK7 RAPSN FGF9 ZNF469 SOX9 GDF3 RPGRIP1L SPECC1L TTC37 EPG5 POLR1C SIX3 FKRP NBN BRAF RPL35A LHX4 SEPTIN9 KIF14 FANCE SHH MAPRE2 EBP CYP26C1 RAD21 GPC4 COL11A1 ARHGAP31 DSE ALX3 GLI2 B3GLCT DISP1 SIX3 FLRT3 PLCB4 FGD1 DLL1 TGFB2 FGF8 SMARCE1 CHST14 BCR SMCHD1 COL2A1 PSAT1 NIPBL POU1F1 CEP41 RPL11 TMEM107 DUSP6 AHI1 TWIST1 FGFR1 CDT1 CILK1 ZEB2 NODAL LETM1 GJB2 USP9X MBTPS2 PRDM5 MYOD1 RXYLT1 STAC3 MAFB IL1B WNT4 GJA1 G6PC3 RAI1 TMCO1 SOX9 BUB1B COL2A1 SLC26A2 GNAI3 MYOD1 HDAC8 BIN1 FKRP TGFBR2 PTCH2 ARID1B CDH1 NEK1 DGCR2 B3GALT6 PROKR2 SEMA3A SMARCD1 CPLANE1 FAM20C STAG2 TMEM67 ZC4H2 FLNA POLR3A FGFR2 PTCH1 CHRNA1 GRHL3 B3GAT3 SHH GMNN GAS1 PIEZO2 DYNC2H1 FRAS1 HESX1 FANCL PGAP3 SMOC1 TP63 TTN RPS29 CSPP1 TGIF1 TMEM216 CDON RPL11 ZMPSTE24 MEIS2 KATNIP DDX59 KMT2D SLC35D1 ERCC5 MAPRE2 WNT4 SLC26A2 MEGF10 RIPK4 PIGY B4GALT7 NUP107 SALL4 GPC4 GLI2 TAC3 CCDC141 SMPD4 BPNT2 CHD7 RPGRIP1 CRKL KLHL41 DLL3 OTX2 RPS26 GLI3 HS6ST1 PIGN SMC1A TGFBR1 KCNN3 SUFU FOXF1 B3GALT6 ANOS1 FLNB EXOC6B USP9X COL9A3 CHRNG KIFBP ESCO2 SIX1 RPL5 SPECC1L ADA2 FGF8 GNB1 WASHC5 POLR1C KRAS KCNN3 ATP6V1B2 CHST3 AMER1 IFT140 KIAA0753 CD96 ARVCF PGAP2 SLC26A2 PROKR2 RECQL4 MKS1 TACR3 FANCF KLHL7 TGDS RECQL4 WHCR PLXND1 MAP3K7 FGF17 CEP120 VAX1 IL1RN SIX3 PHF8 TMEM231 XRCC2 B4GAT1 COLEC11 KIAA0586 SIX1 OFD1 KISS1 FLNB ANOS1 POMGNT1 PHGDH STAT3 RUNX2 FGFR1 DMXL2 DLG1 CDON TCTN2 NSMF KDM6A UBB TRIM8 CCDC22 TBC1D24 TP63 MAP2K2 MKKS COL2A1 SMOC1 ZIC2 TBC1D24 HESX1 CEP290 GLI2 GLI2 SNRPB FZD2 DAG1 MYMK ORC4 SLC26A2 OFD1 FGFR3 POMT2 COG1 MCTP2 FGF8 EYA1 TGFBR2 ZSWIM6 BRCA1 EFTUD2 NDNF RAPSN PDE6D PTCH1 ZSWIM6 CDH1 LARS2 TDGF1 INPPL1 SOX11 MAP3K7 GRHL3 IL17RD CDON SHH AMER1 CC2D2A C2CD3 ASXL1 WDR35 GLI2 GREB1L CREBBP POMK BGN TXNL4A NUP107 SF3B4 KISS1R TBX1 TGIF1 EYA1 SMAD4 IGBP1 NEUROD2 SOX6 DONSON NSMF BMP4 NEDD4L TMCO1 PGAP3 FGD1 PIGL DLX4 GNRH1 MYH3 CDC45 SMC3 POMT1 POMGNT2 SMAD3 DVL3 GATA3 SIK1 TCOF1 ESCO2 CDH1 UBB KMT2C KDM6A TBX2 RPGRIP1L KIF7 MAD2L2 SPRY4 RPGRIP1L INTS1 RFWD3 BMPER MED12 SCN1B CTBP1 BRCA2 TBX1 TACR3 EIF2S3 FGFRL1 KCNK9 ARHGAP29 FGFR2 KANSL1 MYMK CHD7 STAMBP COL11A2 FLNA FGFR2 RPS10 CTCF LMX1B GMPPB SMO PNKP DDX3X POLR2A NODAL MAF CHD7 RET CEP55 KCNH1 IQSEC2 PEX5 XYLT1 IRF6 OTX2 NECTIN1 MSX1 B9D1 RPS28 MESP2 PGM1 HS6ST1 DUSP6 ZEB2 COL9A1 NBN GNAO1 DISP1 MSX2
Protein Mutations 4
R352W R404C T93M V326L
SNP 0
HP:0000316: Hypertelorism
Genes 1004
ELN RPS19 SLC1A4 ZBTB18 PROKR2 TMEM94 SETBP1 HERC1 WNT5A SHANK3 FGFR1 EXT2 FGFR2 LMNA FBN1 SOS2 PSAT1 COL2A1 POC1A SEMA5A PIGO ZBTB24 GP1BB KNL1 FANCI SH3PXD2B WDR37 TARS1 EXTL3 NSD2 SEC24C ZIC3 EXOSC9 CDH11 NELFA FGFR2 PIGA THRA FGF20 LZTR1 NSD2 SLC25A24 PTH1R ACTB HELLS ITGA8 NFASC COL1A2 GTF2E2 CDK19 NF1 EIF2AK3 RAD51 HBA1 LRP2 ERCC4 FBXW11 SMARCD1 HNRNPH2 ASXL1 LBR ASXL3 DVL3 AHDC1 KIAA1109 BMPER FGFR3 SIN3A ANKH EZH2 MED25 KIF7 GLB1 SMS FANCL PRPS1 KMT2A EMC1 C12ORF57 FREM1 ACTG1 PPP2R1A PTPN11 MUSK ATP6V0A2 FLNB PITX2 EPG5 TMEM67 BRAF AUTS2 NRAS MAP2K1 COL11A1 BRAF FLNA PROK2 MYLK NEB SEMA3E TPM2 TWIST1 RPL15 FGFR2 SPOP LETM1 PTDSS1 RPS15A COL11A1 SOS1 ATP6V1A FAM149B1 PHGDH ANKH RBM10 PPP1R12A PEX1 FGFR2 PIGG MAN1B1 RPL26 SEC23A DVL1 RPS27 FANCM KIF7 RYR1 KISS1R MED13L KIF7 SLC2A10 FGFR2 OSGEP ALX1 DDX6 BRAF TBX15 WDPCP CPLANE1 HBA2 FLNA SNAP29 JAG1 WDR73 SALL4 FANCG PITX2 PALB2 ACOX1 RAF1 RPS19 PIGO SPINT2 PEX2 RAF1 ALX4 CDH1 PSMD12 FLI1 GLI3 CAMTA1 RAI1 CHD7 TENM3 FAT4 AVP KMT2E TWIST1 PYCR1 DHX37 TTC37 SHOC2 PEPD RAF1 POLR1D OFD1 CACNA1G PALB2 SKIV2L FGFR2 ABCD4 TGFBR1 SKI SEC23A WARS2 LZTR1 PRMT7 CTCF MEGF8 FGFR2 PIK3R1 TRIP4 TXNL4A KCNJ2 ZIC1 GPC3 DVL1 B9D2 MAPK8IP3 FLNB TMEM231 PIGN EFEMP2 AGA CHRND TWIST1 PIK3R2 COL2A1 ALDH6A1 FGFR2 FLCN UBE3B FANCB CHRNG DPF2 NSD1 KRAS TSR2 ALDH18A1 TRAPPC4 DNAJC21 LEMD3 TPM3 EFNB1 GPC4 TBCE ALX1 DSE ROR2 LRP4 NSUN2 TRRAP COLEC10 ZEB2 IL11RA CHST14 SLC12A6 PAX3 NUP107 SMAD3 NALCN CENPJ UMPS DHCR7 ZMIZ1 CHD4 HSD17B4 RBM10 DPH1 GJA1 MFAP5 LIG4 NTNG1 MRAS INPPL1 MASP1 KRAS TBCE ANKRD11 ZBTB18 KRAS PTDSS1 SMCHD1 SH2B1 CDC42 TASP1 CDH2 ERF GJA1 RPL5 TGFB3 ROR2 PSAT1 SLC39A13 TGFB3 FBN1 MIR140 MED25 CCND2 COG1 ACTL6B SMS RREB1 RAD51C SH3PXD2B CIT FUCA1 CPLX1 FGFR1 CDCA7 OFD1 TBX1 CDK13 ZMYND11 ALG1 CNTN1 CASK NRAS SUZ12 PIK3CA GK KIAA0586 CDH11 SUFU PTEN PTRH2 MAN2B1 ZMPSTE24 ALDH18A1 ACTL6A DPH1 LRPPRC FLNA BRCA1 KLHL41 FANCD2 PIK3R2 PIGV MED13 NUP88 CHSY1 RMRP GLI3 BCL11B KIF15 PTPN11 SPECC1L KAT6B PMM2 RUNX2 BRPF1 SOX9 RPS7 PTRH2 PIGL SEMA3E WDPCP ACTL6B LRRC8A SPECC1L EED DDX59 GNRHR FGFR1 SLC45A1 BRIP1 GATAD2B PTCH1 LBR NUP133 ERCC3 PTPN11 IGLL1 TBR1 NOTCH3 SLC18A3 TAPT1 FLNA FAM20C CENPF RAI1 MYT1L AFF4 HDAC8 ATP6V1A TBL1XR1 SMG9 COL11A2 CTNND1 TTC7A MAT2A PSMD12 DVL3 FGFR2 FREM1 COL11A1 CBL ITGA8 TRIP12 FGF10 SHROOM4 ACY1 ATRX RRAS TMEM216 PHIP WAC ACTA2 ARID1B PSMD12 SPRY4 PIGN FGFR2 FANCC DHCR7 UBE2T FAM111A TCTN3 BRCC3 MUSK VPS51 RPL27 RASA2 HMGA2 RAC3 BPTF LTBP4 ALX4 SLC25A24 MID1 SOS1 WASHC5 INTU RPS24 STAT3 BPTF FLNA TFAP2A RPL35 SLC2A10 RPS17 MKS1 COMT KBTBD13 NEB ACY1 POLR1A CTNND2 MYH3 FAT4 BRAF PIGV ATRX CTNND1 ANK1 PIEZO2 FOXE3 DEAF1 MED13L ACTB PIGL TGFBR2 ATP6V1E1 C12ORF57 MRPS14 SNAP29 PTPN11 TAF1 FLNA FLII PDE4D GRIP1 PIGW COL1A1 MED13 RPS6KA3 FANCA TCTN3 TCF12 TWIST1 FLNA IL1RAPL1 TPRKB TRIM37 RPL31 FLNB COLEC11 SOS2 RPL18 DVL1 SMAD3 WDR4 EHMT1 TGFBR1 SEC24D TGDS HSPG2 FAR1 ERF KREMEN1 DNMT3B GLI3 SIN3A TCIRG1 CHRNG MEF2C UBE2A FGFR2 FAT4 NF1 FGFR3 INTS8 ZIC1 PEX6 DNMT3A FGFR2 WNT5A SET GJA1 B3GLCT TUBB TPRKB POLR3A HIRA PIK3R1 SVBP TFAP2B TBX1 COL3A1 MOCS2 TELO2 FGFR3 NXN MAN1B1 PYCR1 FIBP PPP3CA CHST3 KIF7 CDC42 SUFU POGZ NOTCH2 FAT4 ANKRD11 NEB YWHAE PDE4D WDR11 TWIST2 BMP2 BPTF SALL4 ALG13 HRAS MTOR EED ADK ADGRG6 STRADA CPLX1 ATP6V0A2 XYLT2 ZBTB24 QRICH1 CHST3 RIT1 PTEN RLIM SOST FGFR3 TFAP2B SLX4 CDK10 SUFU GPC3 RPGRIP1L TCTN3 CASK FBLN5 TP53RK TCF20 JMJD1C PAX3 UFD1 ZMIZ1 CREBBP FREM2 NKX2-5 COLEC10 LMNA AHDC1 APC AKT1 MMP2 GATA6 FGF8 RIPK4 ABCC9 FBXO11 ALG9 MN1 ACTG1 NFIX HERC1 CCNK IGHM ALX3 KLHL41 TBX1 CD79A GATA1 MASP1 DOK7 RAPSN CCBE1 LRP2 SOX9 FREM1 SPECC1L TTC37 AIFM1 SETBP1 TMEM216 RLIM EPG5 OGT APC POLR1C TGFB2 PIK3CD ACTB BRAF ACTA1 RPL35A ERMARD FANCE CHD3 MAPRE2 EBP MARS2 TBL1XR1 ANTXR1 GPC4 DSE DDX6 CSNK2A1 ALX3 FLNA B3GLCT TBCD ATP6V1E1 ITCH FGF3 NF1 FGFR2 FGD1 TGFB2 CHST14 PAX3 WDFY3 NKX2-6 VSX1 FH PPP1CB PSAT1 FGFR3 PIGB TMEM107 MRAS MAP2K1 TMEM138 DPM1 TWIST1 TBX4 BCORL1 MYH11 ZEB2 LETM1 CASK FIBP NXN DCHS1 MAF RAF1 RAI1 GNE TMCO1 BUB1B RRAS2 SUZ12 SLC26A2 RERE FGFR1 MYOD1 VAC14 ATRX TGFBR2 KIF7 PTCH2 AUTS2 SMAD4 RUSC2 SOST DOCK3 CSPP1 CCBE1 LRRC8A MOCS1 CPLANE1 PEX6 TMEM67 FLNA TRMT1 RPS7 POLR3A MTOR FGFR2 PPP2CA FOXC1 CHRNA1 B3GAT3 ALG13 FOXC1 NBAS IRX5 RSPRY1 FRAS1 RPS6KA3 PPP2R1A FANCL SPART CNOT3 PGAP3 RPS29 CSPP1 KNSTRN TMEM216 PEPD BRAF PTCH2 TCF3 RPL11 ZMPSTE24 FIG4 PACS1 KATNIP PPP1CB DDX59 PLCB3 PYCR2 RIPK4 MAP3K7 FZD2 PIGY NOTCH3 B4GALT7 CCDC47 GPC4 PACS1 TAC3 SHOC2 FGFR2 SIX2 CHD7 RPGRIP1 RPS26 FGFR1 GLI3 HS6ST1 THOC2 LOX PIGN TGFBR1 RB1 SPART ANOS1 SIK3 SMC1A CHRNG KIFBP ESCO2 RPL5 TONSL BNC2 KCNH1 MYH3 ADA2 PARS2 DNMT3B EFNB1 WASHC5 CTU2 KCNN3 FGFR3 ATP6V1B2 CHST3 AMER1 ALX4 KIAA0753 ATP6V0A2 ARVCF AKT3 ATRX GALNT2 TWIST2 PGAP2 SLC26A2 RECQL4 MKS1 TACR3 FANCF EHMT1 KLHL7 POR ZIC2 RECQL4 FGFR1 ODC1 RPS6KA3 WHCR MAP3K7 FGFR2 FGF17 CEP120 TPM3 CDCA7 DICER1 BCL11B EBF3 TMEM231 XRCC2 LRP5 NF1 COLEC11 OFD1 ATRX KISS1 RSPRY1 FLNB PHGDH PAFAH1B1 HRAS RUNX2 TCTN2 CD79B KMT2A FBN1 CCDC22 TBC1D24 INSR SRD5A3 NRAS MAP2K2 BLNK PHACTR1 MED12L MYT1L MYPN PRKG1 TBC1D24 MPLKIP CEP290 NSMCE3 SUFU CCDC22 FZD2 NONO TRIO ASXL3 EXT2 RPL35A OFD1 FGFR3 GPAA1 COG1 EZH2 MCTP2 ACTA1 NSUN2 EP300 TGFBR2 TRAPPC9 ZSWIM6 BRCA1 AP4S1 LMBR1 ACOX1 RAPSN PDE6D ZSWIM6 PDHX GLE1 MAP3K7 FIG4 CC2D2A ASXL1 WDR35 GREB1L TNFRSF11A RIT1 TRAPPC9 BGN TXNL4A PRKAR1A CHRNA7 MAP2K2 SLC29A3 DDR2 GNE TBX1 LRP4 SPRED1 OSGEP SMAD4 WAC IFT43 HNRNPU SOX6 PACS2 LAGE3 NSMF BMPR1A TMCO1 HELLS ELN COX7B SKI ERCC2 PGAP3 FGD1 ASXL2 ADAMTS3 PIGL DLX4 GNRH1 TP53RK ADAT3 GPC4 FLNA COL27A1 CBL SMAD3 DVL3 GBA CC2D2A KDM1A KLF13 TCOF1 ESCO2 CDH1 TBX2 KCNH1 RPGRIP1L NGLY1 PPP2R5D MAD2L2 INTS1 RFWD3 FGFR1 PEX3 BCORL1 PTCH1 TWIST2 FRAS1 MED12 CTBP1 NSD1 GATAD2B ANTXR1 NKX3-2 TBCD WDR73 BRCA2 FOXP1 ADAMTS3 TBX1 FGFRL1 KIAA0753 DCHS1 FGFR2 ALG8 PRKAR1A CHD8 KCNMA1 A2ML1 SETBP1 USB1 STAMBP HACE1 LRP4 FLNA FGFR2 RPS10 CTCF FOXP1 DDX3X POLR2A RNF113A MAF ALG9 TMEM237 SMO MED12 CHD7 RET SKIV2L CEP55 KCNH1 IQSEC2 PEX5 RSRC1 GTF2H5 B9D1 RPS28 ERF DUSP6 RNU4ATAC ZEB2 SIM1 TANC2 ITGA3 CAMK2A DOCK6
Protein Mutations 4
R352W R404C T93M V326L
SNP 0
HP:0001249: Intellectual disability
Genes 2893
NR2E3 SMARCA4 SLC6A19 WT1 SLC1A4 ZBTB18 SETBP1 GAD1 GUCY2D LSS PGM3 PEX1 PUS1 TRIT1 POMT1 FOXG1 CTNNB1 EEF1A2 NR2F1 NTRK1 XYLT1 GAN SEMA5A CRADD GP1BB ASS1 BCS1L MARS2 FANCC ADRA2B EXTL3 C12ORF4 SEC24C PROM1 SUCLA2 PAH CDH11 FGFR3 NELFA NOVA2 CUX1 MMP14 AP4E1 TINF2 FRMPD4 WWOX NSD2 PCYT1A KRAS TRIP13 FTSJ1 KCNH1 RNU4ATAC FOXH1 IKBKG SETBP1 SOX4 MAGEL2 LINS1 SOX5 CDK19 NF1 HEPACAM GPI RAD51 RTN4IP1 DAG1 ERCC4 SMARCD1 HNRNPH2 ASXL1 DVL3 AHDC1 KCNJ6 DGCR8 USH2A NECAP1 FGFR3 NUP62 SIN3A FTSJ1 PIGG C12ORF4 NSD1 ERCC2 GLB1 SATB2 SPINK5 FANCL PRPS1 CAVIN1 RBMX RBBP8 LAMA2 WDR45 NAGLU KMT2A GUSB MSTO1 SHROOM4 EMC1 EVC C12ORF57 RNU4ATAC PPP2R1A TPM3 SIL1 GNPTG GRIA4 DAG1 PGAP2 TMEM67 BRAF FBLN5 ARX LZTFL1 ACP5 ATP6V0A2 CSNK2B KIF11 MAP2K1 MAN2B1 WDFY3 BCS1L SYNJ1 BRAF FLNA CDH15 PUF60 TP63 SUCLA2 SEMA3E LYST TKT FKRP UFC1 GDF6 H19 ATRX GATM TMEM67 FGFR2 APP SPOP CACNA1H CUX2 DPYS GPT2 DNAJC21 LETM1 NCAPD2 POMGNT1 WDPCP PTDSS1 ACTL6B ATP6V1A FAM149B1 ABCA2 FGFR3 SLC16A1 TRIO ZIC1 MAN1B1 HNF4A SBDS DYM RERE TANC2 EYA1 KLLN ARNT2 FANCM KDM5B SLC13A5 USP8 KIF7 SRPX2 THG1L AP1S2 MYCN PTEN SEMA6B SLC2A10 FGFR2 UBR1 OSGEP IARS1 SVBP VPS13B GJA1 GLI2 ATIC GAS1 CPLANE1 CAV1 ANKRD11 IFNG HHAT SURF1 SOX11 JAG1 ARL13B TACO1 HERC2 UBE3B COL4A1 SLC9A6 DMXL2 MECP2 RAB3GAP1 HDAC6 STT3B FANCG KCNJ10 TGIF1 MKS1 PAX8 RPS19 CASK PIGO SHH FAR1 TMEM240 ARHGAP31 CTNNB1 MERTK RFT1 CDON PRPF6 SCN8A ALX4 FGFR1 EVC2 SIX3 SERAC1 CYP27A1 RPGR SLC36A2 PRDX1 GLI3 WDR11 TOR1A RAI1 LAMA2 USH1G QDPR RAB23 TENM3 FAT4 CIT VCP ZIC2 KMT2E PYCR1 RIC1 TUBB3 GABRG2 ERF ALDH3A2 CNNM2 MAGT1 ST3GAL3 FGF8 RAF1 SHH CACNA1G SKIV2L LYRM7 STXBP1 SON PAX6 RET FTCD TH NODAL SKI PCDH19 HAAO BUB1B SLC26A4 GRIA3 USH1C SMC1A ZNF148 CLN8 CC2D1A ASL MTFMT CLRN1 GAS1 STAC3 TMEM231 ARX FLNA PIGN TBX1 NTRK2 TWIST1 TDGF1 PAX3 DUOXA2 DYRK1A HCFC1 DNM1 BCOR RAB23 FLCN CYP24A1 UBE3B DPF2 NSD1 CTH PIGQ TSHR PLK4 POLG HCN1 ARL3 GMNN ALX1 ROR2 SIX3 NDUFV2 IDH3B LMAN2L MTHFR RIPK4 EXOSC2 FANCB GABRA1 TAB2 GABRB3 ZEB2 RPL10 FRMPD4 ARCN1 TUBB2B ENTPD1 APC CENPJ NCAPD3 NRTN COL13A1 PEX7 ACSL4 EGF BUB3 GJA1 LIG4 LARP7 NTNG1 LAMA1 GRIK2 SDCCAG8 ANKRD11 ZBTB18 ALG11 ARL3 APP CCDC88C HUWE1 COA3 SEPSECS DLG4 COL4A1 PRPF3 ACAT1 RDH12 AIFM1 TMEM237 BBIP1 FBN1 SLC2A1 NRXN1 HPRT1 CDKL5 TULP1 CTSA MMP2 PQBP1 IDUA HINT1 PTS CIT ERLIN2 EDNRB XPA OFD1 CDK13 VARS1 TSPAN7 SETD5 SYNGAP1 ZMYND11 DPAGT1 PPP3CA CNTNAP2 ESS2 COX7B PEX12 SCAPER APC2 SUFU CYP2U1 HSD17B10 MAN2B1 TRMT10A FBXO31 ALDH18A1 ACTL6A TBC1D24 D2HGDH TIMM50 MMUT CEP290 KATNIP FANCD2 ALDH7A1 HCCS SMARCB1 CTNNA2 PPM1B UPF3B PIGV NSDHL CYB5R3 OPA1 RMRP GMPPB TRIM32 TRH SYNJ1 GLI3 RFC2 ABHD5 BCL11B PRCD KIF15 TDGF1 ATR PMM2 SEMA3C SGSH SLC7A14 B9D1 PDE4D RAB3GAP2 TANGO2 USP7 ARX TRNS1 GNPTAB CTSA NLGN4X SEMA3E KRT83 SHANK3 SLC35A2 DDX59 ZNF711 HK1 EDC3 ETHE1 MYL2 CLCN4 PYCR2 FRMD4A TBR1 NT5C2 CEP152 CDK8 POMT1 NCAPH INS CC2D2A HNF1A MED12 TRNL2 MAP2K1 CEP83 DKC1 CDH23 SYNGAP1 NFIA PAFAH1B1 PGK1 AFF4 FIG4 TBL1XR1 SNRPN HSPD1 SLC6A8 VAMP2 MGME1 FOXH1 NDUFAF5 EOGT PHF6 SPTBN2 ACTA2 GPHN GPR161 NDUFS4 TRIP12 PTEN PHOX2B ALDH18A1 DMXL2 GUF1 SOX3 PHIP XPA FMN2 WAC ADAM22 STRA6 NTNG2 NDUFB8 SDHA FGFR2 FANCC WFS1 IFIH1 COA8 DHCR7 TREM2 PTCH1 SLC35A1 CLCNKB CKAP2L COLQ AGBL5 CC2D2A RAC3 BPTF COX10 MGME1 CLCN4 SAMD12 ARMC9 GAS1 WASHC5 SMARCE1 ERCC5 POLR3B ELP2 PRICKLE1 RERE MAOA LHX4 ERLIN2 DONSON MKS1 FGFR3 ARHGEF9 SHH POLR1C ATP1A3 STAG2 FAT4 CDON PRKRA AKT1 MRPS2 FAM149B1 CCDC88A RPE65 NFIX DEAF1 HADHA PAH PIGL DALRD3 SATB2 PHGDH TRNS1 PTPN11 SLC4A4 TAF1 FLNA PDE4D TRAPPC11 FA2H GRIP1 ALDH7A1 PIGW PODXL TGIF1 SPAST RAB39B LAMP2 SMC3 RPS6KA3 MECP2 APC2 ARHGDIA NTN1 GCK TCTN3 SMARCC2 FGFR1 ATAD3A PQBP1 PNP PET100 BLM CEP63 IL1RAPL1 RAB3GAP1 TERT GLRB TDGF1 MEIS2 KIF1C OFD1 CERKL TSEN15 GLYCTK METTL23 TRNL1 CDK5RAP2 CERT1 DVL1 TGIF1 RHO EHMT1 ACER3 RPGRIP1L CEP120 WDR81 INPP5E IGF1 DNMT3B ANO10 TCIRG1 MEF2C UBE2A ATP6AP1 LFNG INSR RPGRIP1 PNPLA6 FGFR2 TUBGCP6 CEP290 FAT4 ARL6 ZIC1 CACNA1A WDR26 SRY TMX2 DNMT3A UBTF KCNQ1OT1 DUOX2 TANGO2 GORAB PHYH CEP290 SDHB WNT5A BSCL2 ADSL SET RARS1 CISD2 LARGE1 MFSD2A OFD1 AP1B1 TSHR MID2 POLR3A PRPS1 SMC1A GOT2 GHR HPRT1 TUBGCP4 NTRK2 FGFR1 SVBP GAN PCDH15 SLC39A14 COL2A1 TFAP2B ALDOB NSD1 EYA1 DLL1 AP4M1 GNB5 PUM1 NXN CEP57 RDH11 TBCE CENPJ SEMA3D NR2F1 KDM6A UNC80 PPP3CA RAB3GAP2 TAF13 KCTD7 HES7 ZDHHC9 KIF1A SUFU POGZ CA2 FOXH1 PIGP TTI2 DYNC1I2 NRXN1 NODAL HESX1 SPR MECP2 SDCCAG8 ALX4 TBC1D23 RAB39B CIC COX10 PRPF4 SCN8A RP2 PPARG USP27X POMT2 RNU4ATAC TWIST2 SMARCB1 YARS2 GRIN1 STXBP1 BCOR TOPORS BCL11A ALG13 MCOLN1 GRIN2B TYMP DNMT3A ARL2BP KIF11 MLXIPL CEP290 CHMP1A MCCC2 CPS1 RAB18 CHD2 CPLX1 DARS1 HNRNPK XYLT2 ZBTB24 CACNA1C NSDHL FGF8 DMD SLC16A2 GNB1 SRPX2 DPF2 BBS2 RIT1 STAG1 TP63 RLIM CSTB ERCC8 CEP135 UBE3A ZFYVE26 CDK10 SUFU MSX2 DISP1 GAS1 RPGRIP1L AIMP2 TLR3 PRPS1 FBN1 TCTN3 CRADD C12ORF65 TCF20 LARGE1 MAN1B1 UFD1 CANT1 LMNA FREM2 MKKS CPLANE1 TSC1 DLL1 TRMT10A TUBB4A TXNRD2 EIF2AK3 APC GMPPB PIK3CA L1CAM AKT1 YY1AP1 RNU4ATAC GNB5 ARID1A NACC1 B3GALNT2 GABRB2 ABCC9 FBXO11 PMPCB ORC6 SOBP NFIX RORA IMPA1 TG HERC1 SDHC CDON PTCH1 ITPR1 DAG1 ALX3 ADAR PUS1 PREPL MED12 TMEM67 ATRIP LHX3 INPP5E CCBE1 USP9X ARL6 DNA2 LRP2 SMARCA2 MECP2 SCO1 REEP6 SPECC1L TMEM216 RLIM TCN2 STIL PLP1 PIK3CD ACTB BRAF CACNA1B ERMARD POMT1 PSMB8 VAMP1 SAG SDCCAG8 TCTN1 FANCE ADAMTS10 MAPRE2 AKT3 TAF13 EBP RAD21 LMNB2 GPC4 ARHGAP31 NAGA ARL6 NKX2-1 CSNK2A1 GLI2 MARS1 SLC13A5 NFIX HIVEP2 TBCD TMEM107 MICOS13 WDR26 DISP1 SIX3 TDP2 FGF8 AP4M1 GABRA5 AP1S1 SMARCE1 BCR WDFY3 SHH ATAD1 PRPS1 TK2 NIPBL KIF1A PCNT RPGRIP1L CEP41 PRRT2 PARN AP4B1 ARMC9 CHD1 DDX3X MAT1A TULP1 TMEM107 TUBB2B IFIH1 ROGDI RNF135 SYP SPG11 MYRF MYH7 GPAA1 ZEB2 ATP5F1E NODAL TUBGCP6 LETM1 RRM2B DNAJC6 USP9X STAC3 GBA2 PDE10A CSPP1 FIBP L1CAM GAMT TNIK SLC13A5 FMR1 COX6B1 PLAA ALDOA OCRL SORL1 CEP104 RAI1 GUSB NDE1 GNE NGLY1 TMCO1 SLC35A3 BUB1B EZR SUZ12 PIGW GMPPB GUCA1B LAS1L DHDDS MMACHC MORC2 CENPE FGFR1 HDAC8 TRAPPC11 GTF2H5 FKRP POMT1 ASH1L TWNK PUF60 PTCH2 RANBP2 ASAH1 RUSC2 KIAA1549 STT3B ARID1B SPR FLVCR1 OCLN DGCR2 MAB21L2 DOCK3 USP7 SUMF1 PROKR2 CCBE1 PIK3CA BBS5 DCX GGT1 CPLANE1 ARX AAAS STAG2 PEX6 EVC SOX10 TGM6 KIFBP LRAT CEP152 POLA1 POLR3A BIN1 FGFR3 MTOR FGFR2 SEC23B MKKS SLC39A8 CLTC ASAH1 PIGP EML1 SHH PIBF1 HMGCL HNRNPU PIEZO2 MYSM1 PLA2G6 HSD17B10 SETD2 SOST RPS6KA3 KCNB1 PPP2R1A L2HGDH SPART FTL CNOT3 CLPB TECR L1CAM NDUFA12 TTN KNSTRN CBS TMEM216 PRPH2 CDON BRAF PTCH2 NDUFA4 PACS1 NNT CTBP1 KIF14 GUCY2D GRIN2A DHDDS FRRS1L ATAD3A PEX11B CTNNB1 GABBR2 DNAJC12 CKAP2L TCF4 SLC25A1 USP45 ERCC4 AARS1 ANK3 CHD7 SURF1 GNAQ CNGA1 ARL13B PTS SELENON CLPB NDUFA2 COX7B ZC4H2 THOC2 PIGN SMC1A B4GALNT1 CIB2 TRNN SUFU DDHD2 AIMP1 DNAJC21 RHOBTB2 BSND USP9X PNPLA6 PIGU SMC1A ASCL1 NDUFAF6 RAB3GAP1 ESCO2 TBC1D7 CAMK2A PPP1R15B B4GALNT1 TKT EFNB1 DHTKD1 BSCL2 DDX11 SETD2 PNPLA2 ATP6V1B2 ARHGEF18 AMER1 ALX4 TMEM216 NDUFS1 KIAA0753 ATP6V0A2 ZNF423 ARVCF ATRX IQSEC2 PGAP2 C8ORF37 CRB1 TMLHE GRM1 POGZ ROGDI NDUFS2 EHMT1 ATP1A2 KLHL7 ZIC2 RECQL4 NDUFS8 SIM1 DLG3 FUCA1 ADAR WHCR LHX4 SOX3 MAP3K7 PLK4 ANO10 LHX3 SLC9A6 ZIC1 CDCA7 PHF8 TUSC3 SARS1 AP3B2 EXT1 ERCC5 CACNA1A UBE2A PSPH NF1 FGFR3 OFD1 AFF2 AGGF1 ATL1 ARG1 FAM161A RSPRY1 SLC2A1 POMGNT1 HRAS FGFR1 CTSD DMXL2 DLG3 KDM6A TRIM8 CEP63 ALG2 KDSR RPS6KA3 WDR62 SRD5A3 DCC MTHFD1 GALT PPM1D MAP2K2 KIZ DARS2 MKKS EDN3 NFE2L2 PIK3R2 GLRA1 KCNMA1 ERCC2 BRF1 RPS6KA3 GPSM2 VLDLR GTPBP2 SNRPB FZD2 SMPD1 TRIO SNAI2 GRIN2A PEX10 ORC4 OFD1 POMT2 ECHS1 WWOX EZH2 GABBR2 CLCNKA FGF8 COX8A WASHC4 RAB18 NSUN2 EP300 KCNE5 NDUFB11 TRAPPC4 KIT TCF12 TUBA8 NTRK1 PDE6D CEP152 ZSWIM6 FOXH1 IMPG2 AP1S2 GRM7 HACE1 SRP54 L1CAM SBF1 SCYL1 TDGF1 SOX11 MAP3K7 RUBCN YY1 ERCC6 SYT14 CHRNA4 SLITRK6 IGF1R AMER1 GJB3 ZIC2 ARID1A MVK PURA CREBBP DHDDS NKX6-2 TRAPPC9 POMK CRB1 PRKAR1A CHRNA7 NEXMIF MTR NANS ATP6V1B2 SLC29A3 PROP1 HNF4A DNM1 SLC19A3 RNASEH2A MPDZ TGIF1 GLUD1 SMAD4 LTBP2 BBS1 HNRNPU GTF2IRD1 L2HGDH NEUROD2 SCN8A NLGN3 NEDD4L SLC25A15 HELLS KLHL7 SLC5A7 NUS1 KCNA2 IQSEC1 TAB2 PGAP3 PDX1 TDP2 METTL23 KRT86 ADAT3 CDC45 SMC3 POMT1 RAC1 STAG1 CUL4B SLC29A3 POMGNT2 FGFR2 PROKR2 DPYD KLF13 ESCO2 GABRB2 GMPPB SPOP MEF2C KMT2C DCAF17 AGTR2 NT5C2 ALDH5A1 MAD2L2 SZT2 MKS1 TACO1 ALG13 CLN3 MPLKIP BCKDHA RPGRIP1L EP300 RFWD3 FANCE FGFR1 HGSNAT SLC6A5 KRAS ERCC8 ETHE1 UPF3B ARV1 MED23 PTCH1 COG5 TPO ERCC6 MED12 FANCA IDH3A SCN1B CTBP1 GATAD2B TBC1D20 TBCD BRCA2 ADAT3 TBX1 BBS4 LAS1L ERCC1 CAMKMT DCHS1 IFT88 SMPD1 KANSL1 PRKAR1A CHD8 ELN EDC3 TSC2 PRPF8 SLC9A7 POLA1 MSMO1 LAMP2 ACSL4 VLDLR MMUT FLNA NKX2-1 NKX2-5 IMPDH1 FGFR2 CTCF GMPPB PNKP DDX3X MECP2 SLC46A1 CLIC2 MAF ALG9 TMEM237 ARSA TBL2 RAD51 SLC7A7 MED12 VPS11 AIFM1 ZC3H14 SRCAP PGAP1 POMT2 COG6 DMPK TAT IFT74 ZNF81 ZC4H2 L1CAM PEX5 NAGA RSRC1 PRDM16 ASPM IDS IFT27 ATP1A2 KDM5B IKBKG NBN CAMK2A DPYD DISP1 LMAN2L PMPCA DKC1 CA8 KCNA2 GALE TRIO NDUFA10 SLC25A22 ARX HERC1 WNT5A SHANK3 UQCRQ UPF3B LIMK1 ITGA7 RBM28 CNKSR2 NRAS ERCC6 USP27X KIDINS220 ALOXE3 SASS6 EEF1A2 COX15 PIGO MMADHC ZBTB24 FGFR3 MANBA KNL1 FANCI SLC2A1 EGF SALL1 WDR37 EMC1 NSD2 VPS13D DYNC2LI1 SYNJ1 TRNE YAP1 CAMK2B NPC1 MYO5A DPAGT1 MAP3K20 ZBTB20 UPB1 PIEZO2 SYNE1 AP5Z1 POMK SOX2 ACTB RPS23 HELLS GJB6 KCNC3 OCRL TMTC3 SPAST ORC1 POMT2 AFF2 TRAPPC6B HBA1 TMEM67 PSPH INPP5K FBXW11 TAC3 CHRNA7 MYO5A KRAS HPRT1 PDE6A ASXL3 PMPCA SPATA5 LYST KIAA1109 NKX2-5 MBD5 TUBB3 SELENOI MAG EZH2 SMS ERCC6 STS CXORF56 RYR1 VPS11 KCNJ6 FOXH1 GABRA2 GLUD1 STT3A NAGA TUBB THOC6 PET100 ACTG1 SLC2A1 ATP6V0A2 TRAK1 SLC26A4 WDR73 RARS1 PQBP1 SCN1A EPG5 TLK2 TCOF1 GAS1 ERCC4 BCS1L AUTS2 PLPBP STAG2 BCOR KCNJ1 FBP1 MRAP POMGNT1 HGSNAT SLC2A1 ERCC3 UFM1 CRPPA TWIST1 GNAO1 AMT RNF113A NODAL RPE65 GATA1 EFEMP2 TTC8 RTEL1 ATP2A2 KMT2A STRA6 RAC1 ERCC4 DISP1 ADGRG1 HMGB3 POU3F3 ATP6AP2 AHSG PITX3 POU1F1 HCN1 TMEM70 NTRK2 RBM10 NDUFV1 LARGE1 PEX1 AP1B1 ARID2 PTCHD1 ACTA1 RAB3GAP2 GDI1 PCNT SMAD4 DMPK ROM1 SLC6A8 PTEN PLP1 SLC6A17 CARS2 MAP1B COX14 TDGF1 PSEN1 MED13L KIF7 AQP2 NPHP1 GDI1 NDUFA13 PYCR1 SELENOI RP1 PEX5 FGF8 PIGC ALX1 STXBP1 DDX6 BRAF NEU1 COQ2 POU3F4 CYB5R3 PDHA1 DUOXA2 HBA2 PAX3 FLNA SNAP29 ERCC2 PPP3CA GABRB3 LARGE1 WDR73 SCAPER GJB4 ARX PHF21A ERCC3 CA4 NIPBL GABBR2 CYB5A RP9 SRPX2 ACO2 BBS2 PHF6 ACOX1 MBD5 ZBTB20 DBT MTRR PEX2 PGM3 WDR81 WAC STAG2 STXBP1 GNAS PSMD12 DNM1 MYT1L FLI1 ADSL ITGB6 HPD SLC12A6 SCN4A SON NSUN2 ABCC8 B3GALNT2 YEATS2 SLC17A5 ZNHIT3 CAMTA1 SIL1 GRIK2 SFXN4 CHD7 NARS2 CA8 RNASEH2C PLAA PAX6 RBM8A FAM50A ATIC BCS1L HDAC8 H1-4 DCPS PAH GRIA3 TTC37 LONP1 HADH SHOC2 GJA8 PNKP OFD1 TMEM231 TSC1 PALB2 SURF1 ARV1 FMR1 HNF1B BCKDHB FBXO31 FA2H TGFBR1 RRM2B VWA3B TPM2 ANKLE2 ZIC2 WARS2 SNRNP200 SC5D COQ8A PTEN PRMT7 CTCF PLP1 FGFR2 ZIC2 TAF2 GTPBP3 PGAP1 EFL1 ECE1 KCNC3 GLDC KCNJ10 CEP85L AP3B1 TTC8 SLC5A5 TCTN3 GPC3 DVL1 FLNB NDUFAF3 AGA PPT1 IQSEC2 PCNT BBS10 KYNU HNF1B COG5 BCKDK FANCB KIF14 KCNJ10 AKT1 PHC1 BBS2 DISP1 GSS TRAPPC4 RNF213 PTCH1 LEMD3 ALDH3A2 NF1 GPC4 GLI2 COL1A2 GLI2 NSUN2 COLEC10 CHST14 SLC12A6 MGP RBBP8 DOCK7 ADCY3 DHCR7 ZMIZ1 XPC CLTC CHD4 KCNJ10 GNAS FKTN CWC27 SPEG STT3A CHAT ARX MASP1 MAN2B1 GNAQ MYCN CNPY3 KRAS PTDSS1 SMCHD1 SH2B1 CDC42 TUB TMEM240 CDH2 CYP27A1 SLC18A3 CBS NODAL DGCR6 LCA5 ANK3 ACAT1 B3GALT6 ROR2 KAT6B NEK2 RUBCN KCNA2 DHX30 RAD50 CACNA1A RTTN CHKB GPR88 CDK19 MED25 COG1 IFT27 SMS RREB1 KPTN MED25 RTTN ABCA4 CEP57 LRAT RAD51C YWHAG FBLN1 TBCE POMGNT1 KMT5B ZNF592 FUCA1 CPLX1 CEP41 PIGC CDCA7 ZNHIT3 TBX1 PIGT AHCY CASK TUBA1A GCH1 NIN NRAS SUZ12 PIK3CA GK SPG11 CC2D2A CDH11 ZNF408 PTEN ATP6V1B2 PTRH2 AMMECR1 ZSWIM6 DLAT COX20 DPH1 AKT1 KDM5C BRCA1 RAI1 MED13 MCPH1 HRAS AFF4 AP1S2 ERCC2 DHX38 PTPN11 KAT6B IFT172 BRPF1 POLA1 RIPPLY2 SCN2A GLB1 PTRH2 PIGL DCC FKTN PEX7 NSDHL PNPLA6 KAT6B ACTL6B EED KANK1 SLC45A1 BRIP1 GATAD2B PTCH1 LBR PTPN11 GDNF MED23 PTCH1 POMT1 FBN1 OTUD6B PAX1 AHI1 PORCN KRT81 AGL RAI1 TMEM67 CRLF1 PI4KA MYT1L COL3A1 MEGF8 ARID2 HDAC8 CRBN FOXE1 SPATA5 TDGF1 KAT6A PEX6 LARP7 GABRG2 IQCB1 WDR62 NFIX PSMD12 ZNF462 FGFR2 SACS SIN3A TRPS1 UBA5 SLC6A20 NAA10 SHROOM4 ATRX MTOR SOX2 PTEN ATP8A2 USP9X TGIF1 ARID1B PSMD12 UBR1 RAB39B UBE3A ERLIN2 GRIN1 BCOR CSPP1 ZBTB16 UBE2T TSC2 WIPI2 SUCLG1 COG6 KYNU CDC6 HCCS CARS1 HMGA2 THOC2 DHX16 SLC25A24 SKI NRAS KCNA1 KCTD7 INPP5E BPTF AP4S1 FKTN FLNA NDUFS2 TFAP2A NGF LAMB1 SLC2A10 ATRX SSR4 COMT IFT140 INPP5E NLRP3 PAK3 ASAH1 DYNC1H1 MED12 SBDS CTNND2 CACNA1A PAX8 BBS1 BRAF PIGV ATRX ZFR ATP1A2 PRPF31 FKRP DEPDC5 ANK1 PIEZO2 WDR48 MED13L SLC25A15 BRF1 GABRG2 ACTB PTCH1 UBA5 PHKA2 GABRA5 C12ORF57 TBC1D20 GJA5 SNAP29 PAFAH1B1 FOXH1 CCDC28B TECR PAX2 MAPK10 MBTPS2 FLII NRL PDE6G ATP6V1A RBP3 PHKG2 SLC12A5 SALL1 CDKL5 SMARCA4 VPS13B SLC26A4 EBP TCTN2 ITPR1 FANCA AP2M1 YAP1 BRAT1 CLIP1 TCF12 ABCC9 ELMO2 ACP5 TWIST1 FLNA KCNQ2 RAB3GAP2 STAT3 MKS1 MGP TRNN TNIK FLNB SRD5A3 ABCC9 DLL1 COLEC11 DYRK1A OPA3 HNRNPA2B1 SHH RP1L1 EP300 TREX1 CLIC2 ITGA7 HSPG2 ATP7A FAR1 LSS FOXE1 C2CD3 GLI3 GRIN2A FGFR1 SIN3A EYS SMARCA2 SRP54 BUB1 ALDH5A1 ARL6 ABCC8 AHI1 ATP7B SARS1 PC NF1 CEP41 ERCC3 OTC POMT2 DHCR24 ARID1B NDST1 MAK POMGNT1 ACSL4 IQSEC2 MAPK1 GRIN2B SOX5 ATP6V1A COQ8A PQBP1 KCNJ11 FOXE3 DPP6 SYT2 ACTB DOCK6 YY1AP1 CENPJ QDPR PIK3CA B3GLCT DLL1 TUBB FLI1 BDNF MYCN SAR1B FSCN2 HIRA PISD IER3IP1 SARDH DSG4 HEPACAM MGAT2 PGK1 FOXI1 TELO2 SSR4 FGFR3 UROC1 MAN1B1 KCNT1 ARX PDE4D DACT1 KDM5C MKS1 TTI2 ADAMTS10 FIBP IGF1R SH2B1 ZIC2 CDC42 CAMTA1 HDAC6 NONO FAT4 MID2 DMXL2 LINS1 ZNF41 DLL4 AIFM1 UBTF ERCC8 LAGE3 GBA2 SPTAN1 NUP62 DDB2 FANCB PDE4D IGF1 SIX3 BPTF PQBP1 GJB2 LIG4 ACTL6B PDE6B BBS7 GATA4 TIMM50 GMPPB MTOR EED CDON GNPAT TMEM106B KAT6A TAF1 PRKAR1A AVPR2 STRADA BBS12 GNAQ NPHP1 PAK1 FOLR1 C8ORF37 LYST QRICH1 NUS1 RNF125 CRBN PTEN MTRR NKX2-5 SNRPB SLX4 KY DLL1 DEAF1 FGF8 HCFC1 NDP IYD XRCC4 LARGE1 MANBA MECP2 BBS7 ELN KMT2D PPP2R5D WARS2 CXORF56 CASK NGF NMNAT1 FGFR2 ELOVL4 JMJD1C IARS1 ARHGEF2 NIN FRRS1L ZMIZ1 CREBBP HECW2 DIS3L2 AGA HRAS HYLS1 TSHR COLEC10 KIAA0586 SIX3 AHDC1 ORC1 GTF2I KNL1 PLPBP TUBB2B MCCC1 SYNGAP1 PCDH12 EFTUD2 IRF2BPL MN1 ACTG1 PCARE CRPPA SOX4 ALX4 SLC26A4 SETD5 EPB41L1 MIR17HG NECTIN1 SLC2A1 POR MGAT2 LAMB2 ERCC4 DLX5 TOMM40 THOC6 TCF4 VPS53 MBTPS2 MASP1 OTX2 SLC1A1 NHS SCN3A OTUD6B LRP5 AHSG SLC5A5 GRIA2 CACNA1D BBS9 RPE65 MBOAT7 AIFM1 SETBP1 ABCC9 ASL RLBP1 OGT SIX3 CYFIP2 FKRP AP1S1 INPP5E RET CUL4B SLC1A4 NAA15 SHH TBL1XR1 SEMA4A MECP2 ANTXR1 DDX6 RNU4ATAC DEAF1 B3GLCT ATP6V1E1 ADGRG1 CDHR1 PHF8 LMNB1 IDUA DLL1 BBS4 ARHGEF6 MSTO1 SCARB2 KCNQ2 ZNF711 ZNF513 GNAS LIPT1 FH GRIN2A PPP1CB CDON YY1 RAB39B MAP2K1 MARCHF6 LINGO1 AHI1 PNPLA6 SPATA7 MECP2 FGFR1 STAR MFSD2A CREBBP SCYL1 CDT1 SPATA7 EVC2 RARB MBTPS2 GNAS FMR1 GAMT RXYLT1 GATA6 WFS1 CASK CDKL5 FRMD4A TBCE NDP PRSS12 RARB CTDP1 NAA10 ATP7A TSC1 PCCB DEAF1 DCHS1 AASS NHP2 TSPAN7 GJA1 GNAS INPP5K FLVCR1 SLC6A17 MAF PSEN2 GRIN2D TBL1XR1 WASF1 RAF1 EXTL3 CLN8 PCCA PRODH BCAP31 BBS9 ZDHHC9 PAX1 MYO5A PUS3 ADARB1 SOX10 MED12 NEU1 CDK6 SLC3A1 CERS1 BIN1 ATRX CDK5RAP2 TRAPPC11 IGF2 KIF7 AUTS2 FANCD2 NFIX NDUFS7 RPL10 CHD2 POU1F1 SMARCD1 ALDH4A1 CNTNAP2 MOCS1 MYO7A SRPX2 LDHD PCGF2 SLC2A1 SLC1A2 TRMT1 PTCH1 DLL1 ATP8A2 ACVR1 CA2 LMX1B NTRK1 CPLX1 CNGB1 NDE1 GMNN GAS1 NDUFS3 TRAPPC9 PUS3 RSPRY1 KCNJ8 FRAS1 ROBO1 TCF4 ERCC6 RNASEH2B GBE1 FKTN NEU1 HESX1 GPT2 NEXMIF PGAP3 NOP10 SMOC1 NDUFA9 MECP2 TGIF1 PEPD PTCHD1 TUSC3 ERCC8 MEIS2 PGAP1 GCLC TAF2 SLC1A2 POMT1 DDX59 SAMHD1 MSL3 FGF14 MAPRE2 PYCR2 PLK4 KPTN PCYT2 PIGY ATP7A YME1L1 CHD1 PACS1 GLI2 AHI1 CWF19L1 SHOC2 RAD51 CACNG2 GABRA1 CRKL GORAB COX15 LHX1 DLL3 GLI3 ATP6AP2 PHF21A RBPJ AFG3L2 RB1 MLC1 NALCN MC2R AGPAT2 KCNN3 GMPPA POLR3A FOS DYRK1A RECQL4 L1CAM PEX7 EXOC6B CNNM2 STIL KIFBP BRWD3 SDHA TONSL DDHD2 ARSI KCNH1 PAK3 IFT172 AMMECR1 DPM3 TMEM138 IQSEC1 FKRP DNMT3B XYLT1 GNB1 HNMT NACC1 PAX6 KCNN3 RDH12 SCO2 TBR1 CD96 NDST1 GALNT2 MCOLN1 AP4B1 COL2A1 CLIP2 BEST1 ADGRG1 GLI1 FGFR3 CC2D1A KIF4A FANCF FAM126A PDSS1 CLP1 POMT2 MED12 TRAIP GPC6 CEP120 BAZ1B HNRNPA1 RSRC1 BRAF PRSS12 AP4E1 METTL5 TSC2 P4HTM ATP6 TBCE UGP2 ALOX12B DNAJC3 EBP SIX3 BCL11B FKRP EBF3 XRCC2 WASHC4 B4GAT1 SASS6 KLHL15 AP5Z1 PLEKHG2 VRK1 SLC6A1 COLEC11 ATRX OPHN1 WT1 ATRX FGF12 EP300 HESX1 DIP2B PRRT2 MYH3 SLC39A8 SRD5A3 IFT172 ERCC3 MIR17HG SLC35C1 TG B9D1 CDON ADGRG1 RD3 OPHN1 KMT2A PDHA1 CCDC22 MAGEL2 CEP290 INSR SYP CLN5 NPC2 PARS2 TAF6 SETD5 WDR45B JRK HNMT SMOC1 MED12L PDP1 MYT1L ZIC2 DCAF17 HACD1 TBC1D24 ALDH18A1 PCNA SUFU GRM1 ST3GAL3 NONO DAG1 ASXL3 EXT2 EXT2 CLCN4 MYMK NHS FGFR3 GPAA1 XPNPEP3 HUWE1 NAGA NAGA GABRD TGFBR2 TRAPPC9 ZSWIM6 BRCA1 AIPL1 AP4S1 LMBR1 KCNAB2 ARX SNX14 TWIST1 USF3 GCK ENTPD1 ACOX1 GABRB3 NOTCH1 HDAC4 PTCH1 FOXRED1 KIF5A HRAS ADNP AGRN PDHX SDHD CEP135 NDUFB11 SNAP25 RAB3GAP2 SHH DMD CTNND2 TREX1 C2CD3 ASXL1 ERCC4 GLI2 AHR IQSEC2 PNP TMPRSS6 SLC39A14 TNFRSF11A CRX FOXG1 ARX PRMT7 CDK6 CTDP1 METTL5 KCNJ13 DCC FUT8 ESPN UNC80 TBX1 ST3GAL3 IMPDH1 RBM28 CHSY1 IGBP1 EIF2S3 PACS2 BMPR1A TMCO1 IYD SLC6A19 ATR SKI FGD1 COG6 ASXL2 ADAMTS3 PIGL MMADHC SLC45A1 DNAJC6 SCN1A YWHAG TRAPPC14 COG8 APC2 HSPG2 ZFYVE26 CC2D2A PEX5 SIK1 SOX10 CNKSR2 TMEM237 STARD7 SLC12A1 COPB2 TECPR2 KCNH1 HEPACAM ACOX2 PPP2R5D ASPM SLC2A1 IGBP1 NHP2 COG8 FRG1 FGF14 MCPH1 BCORL1 SLC35A3 TET3 FRAS1 FOXI1 ACVR1 NSD1 SLC16A2 PCDH19 C12ORF65 FOXP1 GNB5 WDR45 MYO9A DNAL4 HCN1 EIF2S3 KCNQ5 TMEM237 FGFRL1 AMMECR1 IL1RAPL1 SUMF1 KCNK9 FGFR2 CREBBP MYMK HTT CWF19L1 NDUFAF2 CEP19 FGFR3 GCSH HACE1 PAX8 DISP1 PUS7 CHAMP1 TTC8 CRX NTNG1 FAM126A ZC3H14 FOXP1 KDM3B KIDINS220 NODAL TSHB SAMD12 ATP6 ZIC1 ERCC6 SMO RGR FMN2 KAT6B TAT ABCA7 GTF2E2 KCNH1 ARG1 CNTN2 IQSEC2 UGT1A1 XYLT1 ACD COA8 DNAJC19 MESP2 GALT TOE1 IFT140 STXBP1 MBOAT7 RNU4ATAC ZEB2 TANC2 GNS RNF13 ARFGEF2 GNAO1 PPP1R15B ABCC8 FBXW11 CANT1
Protein Mutations 0
SNP 0
HP:0001252: Muscular hypotonia
Genes 2521
SMARCA4 TBC1D24 ND4 SLC1A4 ZBTB18 MMUT NDUFS6 TMEM94 SCN1B GPHN RNASEH2C TXN2 COG4 TRIT1 FOXG1 EEF1A2 NR2F1 XYLT1 POC1A GAN SEMA5A CRADD GP1BB HS6ST1 EXTL3 EGR2 GDNF NDUFS1 C12ORF4 SLC25A19 SEC24C TRNL1 GFPT1 NELFA NOVA2 RYR1 CUX1 SEC24D TONSL ELAC2 AP4E1 PEX11B PEX11B COL6A1 FKRP DBH CCDC141 WWOX NSD2 FBXL4 PCYT1A KRAS TRIP13 ERCC1 TRPV4 FEZF1 KCNH1 ACTA1 FOXH1 IKBKG SOX4 BTD MAGEL2 LINS1 SOX5 GTF2E2 NEB PEX10 NF1 PRF1 DAG1 NDUFS6 SMARCD1 HNRNPH2 ASXL1 AHDC1 NPHP1 DGCR8 MLH3 NECAP1 NUP62 SIN3A GCDH PIGG C12ORF4 NSD1 SATB2 NDUFA1 PRPS1 LAMA2 DDOST KMT2A DLD MSTO1 EMC1 MCCC1 C12ORF57 RNU4ATAC PPP2R1A TPM3 SIL1 TRIP4 COQ2 GRIA4 PGAP2 TMEM67 BRAF PAX7 ATP6V0A2 CSNK2B MAP2K1 TRIM2 ARSA HADHB CD59 SUCLA2 TKT UFC1 ALG12 TPM2 GDF6 NEUROD2 TSFM TMEM67 SPOP GPT2 LETM1 TRIP4 ACTN2 FKBP14 PTDSS1 ACTL6B MYF6 SCN2A SOS1 ATP6V1A FAM149B1 PEX19 ACADM PEX3 MORC2 PEX13 SELENON HNF4A NPAP1 COA6 RERE TANC2 KDM5B COL6A1 SLC13A5 KIF7 SNORD116-1 RYR1 AP1S2 PEX19 TGFBR2 SLC2A10 UBR1 OSGEP ALAD IARS1 VPS13B GLI2 TRAPPC12 HLCS CCDC174 HIBCH GAS1 CPLANE1 RARS2 SURF1 SIX6 RRM2B ARL13B TACO1 HERC2 ZFP57 EDNRB GFM2 GBE1 LMNA RAB3GAP1 GNPTAB STT3B MKRN3 TGIF1 MYO1H POLG VDR PAX8 CASK PIGO SHH FAR1 NDUFS7 CTNNB1 PIGH FGFR3 PEX13 RFT1 CDON PLCB4 RAF1 SCN8A SLC18A2 SIX3 SERAC1 ETFA DST GALC PRDX1 NKAP TOR1A RAI1 LAMA2 KCNMA1 TRNV QDPR PEX14 TMEM165 NDUFA6 MYH7 ZIC2 KMT2E ALDH18A1 TUBB3 GABRG2 ERF ALDH3A2 MAP3K20 ST3GAL3 PIGQ FGF8 SELENON MYOT SHH CACNA1G LYRM7 STXBP1 SON SLC25A22 GALC RET TH ABCD4 NODAL SKI BUB1B SLC26A4 DPAGT1 SMC1A ZNF148 EIF2AK2 CC2D1A MTFMT TRHR GAS1 STAC3 TRIP4 RYR1 MAPK8IP3 ARX TBX1 RAPSN NTRK2 RAB11B HTRA2 NDUFB11 B4GAT1 TIMM22 DUOXA2 VIPAS39 COL1A1 HCFC1 DNM1 FLCN CYP24A1 UBE3B DPF2 DNM2 NAXE PIGQ KRAS IDH2 TSHR PLA2G6 HCN1 TUBB2A ARL3 EFNB1 DSE SIX3 NDUFV2 MTHFR TSHB ZEB2 RPL10 KIF22 TUBB2B NUP107 FXR1 PEX7 SLC22A5 MDH1 HSD17B4 BUB3 SOD1 VPS33B CASR NTNG1 LAMA1 GRIK2 AIFM1 DAG1 ALG11 PLOD1 COL6A1 COA3 CD96 TGFB3 PSAT1 SLC9A7 COL4A1 MRPS34 TMEM237 EIF2B5 FBN1 NRXN1 HPRT1 CDKL5 TULP1 TUBGCP2 SLC35A2 PIGK NDUFS7 SYNE1 CPS1 PTS RELN CDK13 VARS1 SETD5 SYNGAP1 DPAGT1 PPP3CA CNTNAP2 ESS2 TPI1 PEX12 APC2 MAN2B1 TRMT10A FBXO31 ALDH18A1 ACTL6A D2HGDH PEX26 TIMM50 MMUT LRPPRC KATNIP PYGL ALDH7A1 SMARCB1 CTNNA2 PPM1B PIGV NSDHL SLC33A1 RRM2B SYNJ1 RFC2 BCL11B KIF15 TDGF1 PMM2 B9D1 TANGO2 USP7 LAMA1 TRNS1 MLYCD SEMA3E SLC13A5 SHANK3 ACSF3 SLC35A2 FGFR1 PHOX2B HK1 NAGS TMEM260 ETHE1 MYL2 CLCN4 SOX2 TBR1 PEX19 PEX12 CDK8 SLC7A7 INS CC2D2A HNF1A MED12 MAP2K1 PEX14 NDUFAF4 SYNGAP1 NFIA PAFAH1B1 FIG4 TBL1XR1 SMG9 HSPD1 SLC6A8 VAMP2 ALDH18A1 FOXH1 NDUFAF5 PHF6 FARS2 CBL NDUFS4 TRIP12 PHOX2B DCPS DPAGT1 EIF2B2 ACY1 PNPT1 RRAS PHIP FMN2 REV3L WAC ADAM22 PHKG2 STRA6 NTNG2 NDUFB8 TOR1A SDHA FGF17 CARS2 IFIH1 COA8 DHCR7 PEX1 PEX12 ADAMTS2 FBP1 AARS1 ADCY6 OGDH SLC35A1 PROK2 CLCNKB COLQ CC2D2A BPTF COX10 UBA1 CLCN4 TPM2 ARMC9 GAS1 NDUFS1 LYRM4 WASHC5 GALC ELP2 RERE KBTBD13 AGTPBP1 MKS1 LIFR FGFR3 AEBP1 STAG2 DOLK PRX MRPS2 CCDC88A RPE65 DEAF1 NDUFAF8 PEX2 HADHA PIGL ATP6V1E1 ATP2B3 DALRD3 COL6A3 CRAT PSAP PEX12 TAF1 NALCN PDE4D TRAPPC11 SDHAF1 ALDH7A1 PIGW TGIF1 RPS6KA3 FLNA NOP56 KDM1A COL6A1 PROKR2 APC2 CTNS SMARCC2 ATAD3A COX15 PNP EARS2 GLUL PET100 TUBA8 TPRKB RAB3GAP1 ASCC1 TDGF1 KCNJ11 ASNS FARS2 PEX6 TSEN15 TRNW GLYCTK COL6A3 SCN9A METTL23 STRADA CERT1 ARX TGIF1 WDR4 EHMT1 RPGRIP1L TRNK CEP120 SLC30A9 WDR81 INPP5E ERF CNOT1 MEF2C RPGRIP1 CEP290 FAT4 SLC34A1 WDR26 DNMT3A DUOX2 PHYH CEP290 ADSL SET RARS1 ATP5F1A LARGE1 MFSD2A SGCE POLR3A PRPS1 GOT2 KCNT2 PHKB SVBP TCTN2 SLC39A14 TPM3 RMRP DLL1 AP4M1 GNB5 PUM1 CEP57 PDE10A LMOD3 FKTN KDM6A UNC80 PPP3CA KIF1A TRNT POGZ PIGP PEX11B DYNC1I2 NRXN1 NODAL SPR MECP2 PREPL TBC1D23 ANTXR2 CIC COX10 SCN8A NEB C12ORF65 POMT2 SMARCB1 YARS2 GRIN1 CSGALNACT1 STXBP1 HADHA ALG13 MCOLN1 GRIN2B DNMT3A KIF11 MLXIPL ADK CHMP1A MCCC2 PCLO RAB18 PEX5 CYP27B1 CPLX1 DARS1 ATP6V0A2 HNRNPK XYLT2 LMNA RYR1 CACNA1C NSDHL FGF8 GNB1 DPF2 STAG1 RLIM ERCC8 UBE3A TMEM43 CDK10 FKTN DISP1 PEX13 GAS1 GPC3 RPGRIP1L NKX6-2 PRPS1 TCTN3 TP53RK TCF20 LARGE1 MAN1B1 UFD1 FRA16E FHL1 CPLANE1 DLL1 TUBB4A GRID2 EIF2AK3 APC GMPPB PIK3CA GNB5 ARID1A NACC1 B3GALNT2 GABRB2 FBXO11 FAN1 NDUFA11 FOXG1 PMPCB LNPK RORA MSH2 TG HERC1 CDON PTCH1 SLC52A2 TMEM63A ADAR PUS1 PREPL TMEM67 MAG LHX3 INPP5E LIFR TELO2 TNNT1 PBX1 PWAR1 SOX9 ATCAY SCO1 SPECC1L KIF5A GLRX5 TMEM216 RLIM GFM1 PIK3CD ACTB BRAF CACNA1B ERMARD POMT1 MPZ P4HB DHDDS TCTN1 MAPRE2 EBP PMP22 RAD21 ECHS1 GPC4 ARHGAP31 NKX2-1 CSNK2A1 SERPINH1 GLI2 CPT1A NFIX HIVEP2 TBCD TMEM107 ALG2 PEX26 WDR26 DISP1 SZT2 SIX3 FLRT3 TDP2 SLC18A3 ZBTB11 FGF8 BMP1 AP4M1 PRKCG PSAP GABRA5 ACAD8 AP1S1 SMARCE1 POLG WDFY3 RNF216 PRPS1 TK2 PIGB KIF1A RPGRIP1L CEP41 OPA1 POMT1 MRAS AP4B1 ARMC9 CHD1 DDX3X SCN1A CASR HTT SDHA DPM1 TUBB2B IFIH1 TK2 ATXN1 ND3 ND1 BCORL1 GPAA1 TARS2 ZEB2 IFIH1 LETM1 RRM2B USP9X MYOD1 KRAS CSPP1 GAMT PEX3 ATPAF2 TBCK UBA1 SLC13A5 LMOD3 FMR1 COX6B1 ETFDH ORAI1 OCRL RETREG1 CEP104 RAI1 GUSB LMBRD1 GNE NGLY1 TMCO1 BUB1B HEXA EZR DDOST SUZ12 PEX1 SIK1 GMPPB SLC26A2 DHDDS MMACHC MORC2 RERE HDAC8 TRAPPC11 KCNQ2 ERCC6 FKRP CHP1 POMT1 ASH1L TWNK PUF60 RUSC2 STT3B ARID1B SPR FLVCR1 OCLN KRAS DGCR2 DOCK3 USP7 SUMF1 CSPP1 COLQ STX11 DCX SLC6A9 CPLANE1 STAG2 PEX6 SOX10 KIFBP KCNQ3 LRAT BIN1 MTOR PPP2CA SLC39A8 CLTC AMPD2 PIGP B3GAT3 HYMAI ALG13 PIBF1 HMGCL HNRNPU KCNT1 NDUFA11 NBAS SLC25A12 SARS2 PLA2G6 HSD17B10 SETD2 RPS6KA3 KCNB1 PPP2R1A L2HGDH CNOT3 CLPB TECR NDUFA12 ABCC8 TTN KNSTRN TMEM216 CDON ALG14 NKX2-1 FLAD1 NDUFA4 MTM1 PACS1 ALG12 CTBP1 KATNIP PPP1CB KIF14 GUCY2D KMT2D SLC3A1 NDUFB11 FRRS1L ATAD3A NUS1 CTNNB1 MEGF10 GABBR2 DNAJC12 ACACA CKAP2L MYH7 MKRN3-AS1 NOTCH3 B4GALT7 CCDC47 TCF4 USP45 AARS1 RRAS2 GPC4 ANK3 AIFM1 ADCY5 LARGE1 SMPD4 CHD7 ABAT CNTNAP1 SURF1 ARL13B PTS SELENON PEX16 OTX2 RYR1 CLPB TPM2 NDUFA2 DPM2 THOC2 PIGN ND3 SMC1A SCN3A PEX1 TRMU TRNN SCN4A AIMP1 PSAP RHOBTB2 COG7 B3GALT6 SAMHD1 PCCA SCN4A BSND USP9X PIGU SMC1A ASCL1 NDUFAF6 ACP2 FKBP14 FGF8 TKT EFNB1 WASHC5 DHTKD1 CTU2 DDX11 SETD2 PNPLA2 ATP6V1B2 CHST3 AMER1 TMEM216 NDUFS1 BMPR1A KIAA0753 ATP6V0A2 ZNF423 ARVCF ERCC5 ATRX PMS1 PEX16 MTFMT PGAP2 DNM2 CRB1 POGZ NDUFS2 FKRP EHMT1 RPS6KA3 NDUFS8 SIM1 DLG3 LARS1 BRAT1 FUCA1 SLC25A20 SDHD NDUFS2 ADAR WHCR PLXND1 LHX4 SLC9A6 AGK PEX26 LIAS ERCC6L2 TUSC3 AP3B2 EXT1 SPEG GLS CACNA1A TIMMDC1 POMT1 OFD1 MRPS28 RSPRY1 ANOS1 POMGNT1 MRPS22 DMXL2 EEF1A2 TPM2 NSMF KDM6A TRIM8 SRD5A3 DCC GABRA2 PPM1D MAP2K2 CRPPA DARS2 PHACTR1 PIK3R2 KCNMA1 RPS6KA3 ABCB7 VLDLR GTPBP2 SNAI2 OFD1 POMT2 ECHS1 EZH2 PEX13 GABBR2 CLCNKA FGF8 COX8A WASHC4 MAGEL2 SLC34A3 SLC19A3 RAB18 NSUN2 DNAJC19 EP300 DNA2 KCNE5 NDUFAF6 KIT NDUFS3 TUBA8 NDUFV1 PDE6D FOXH1 AP1S2 SDHAF1 GRM7 SLC19A3 HACE1 TDGF1 LGI4 SOX11 HCN1 IL17RD SMARCC2 ZIC2 ARID1A MVK ADCY6 PURA POLE DHDDS RIT1 NKX6-2 POMK EIF2B4 PEX3 CHRNA7 NEXMIF MTR NANS NADK2 PROP1 SLC19A3 ACAD9 RNASEH2A TGIF1 SPRED1 OSGEP ALG2 HNRNPU GTF2IRD1 NEUROD2 SCN8A LAGE3 LAMB2 NEDD4L SLC25A15 NUS1 KCNA2 IQSEC1 PGAP3 CHAT PDX1 TDP2 TP53RK ADAT3 SMC3 POMT1 RAC1 STAG1 POMGNT2 BCS1L FBN1 SPARC COL6A2 ALG6 KLF13 GMPPB NDUFS2 MEF2C KMT2C PEX1 ALG11 KDM6A ALDH5A1 SPRY4 SZT2 MITF TACO1 MPLKIP BCKDHA RPGRIP1L COL6A2 FDX2 COL12A1 ERCC8 ETHE1 UPF3B ARV1 PEX19 NDUFA12 PEX3 CACNA1E PREPL COG5 EDN3 TPO ERCC6 MED12 SCN1B AIMP1 PEX16 CTBP1 ADGRV1 IBA57 GATAD2B NEB TBCD DOCK3 PWRN1 TRPS1 ADAT3 TBX1 LAS1L ERCC1 CAMKMT DCHS1 SMPD1 SLC25A22 NDUFA13 KANSL1 ALG8 CHD7 ELN HADHA EDC3 PCCB A2ML1 STAMBP PEX10 VLDLR MMUT NKX2-1 IMPDH1 SLC17A5 TRAPPC11 CTCF PNKP LMOD3 ELP1 AR DDX3X POLR2A RNF113A MECP2 SLC46A1 MAF SCN1A DDC ALG9 TMEM237 ARSA TBL2 ACAT2 SLC7A7 MED12 MYL1 VPS11 ZC3H14 LONP1 CHRNE MRE11 PGAP1 POMT2 DMPK PEX10 STX1B ZC4H2 PEX5 DLD NAGA GTF2H5 PLOD1 PRDM16 TH COL6A2 ITGA3 ITPA CYP2R1 CDKN1C CAMK2A DPYD DOCK6 DISP1 LMAN2L PMPCA KCNA2 GALE NDUFA10 SLC25A22 PEX5 DCC ARX ISCA2 HERC1 SHANK3 SLC13A3 TRAF7 UQCRQ GNPTAB MAP2K2 LIMK1 ITGA7 NRAS EXT2 FGFR3 EEF1A2 SOS2 SYT1 COX15 TSHR PIGO RALGAPA1 PAX8 TARS1 NSD2 FOXRED1 FDXR VPS13D EXOSC9 SYNJ1 TRNE BMP4 CAMK2B NPC1 MYO5A PIGA DPAGT1 MAP3K20 VAMP1 ZBTB20 DHFR SYNE2 UPB1 LZTR1 COL1A2 PIEZO2 SYNE1 SLC25A24 RPS23 INPPL1 EMD SCN1B KCNC3 NFASC COL1A2 OCRL TMTC3 POMT2 TRAPPC6B HBA1 INPP5K FBXW11 NAT8L CHRNA7 FCSK MYO5A ASXL3 PMPCA SPATA5 KIAA1109 NKX2-5 ASPA MBD5 TUBB3 BTD BMPER MAG MED25 SNX14 SMS ERCC6 CFL2 MCM3AP RYR1 NDUFAF4 FOXH1 MECP2 GABRA2 LMBRD1 STT3A NAGA PET100 TOE1 PTPN11 SLC25A4 FKRP HERC2 ATP6V0A2 TRAK1 WDR73 EPG5 TLK2 ALG3 GAS1 BCS1L PLPBP COL13A1 HIBCH BCOR FBP1 NEB B3GALNT2 COL6A3 COL5A2 GM2A UFM1 CRPPA NDUFV2 GNAO1 AMT COL12A1 RNF13 MIPEP NODAL NUP214 GATA1 GBA HPD HESX1 KMT2A STRA6 RAC1 DISP1 POU3F3 AHSG POU1F1 TMEM70 NTRK2 RBM10 UQCRFS1 NDUFV1 LARGE1 COL12A1 PEX1 PIGG COL1A1 CYP2R1 ARID2 PTCHD1 NRROS ST3GAL5 ACTA1 ACTA1 GDI1 ACADSB DMPK SLC6A8 PTEN PLP1 MPV17 COX14 TDGF1 MED13L KIF7 MPDU1 NPHP1 NDUFA13 PYCR1 ATAD3A C12ORF65 FGF8 STXBP1 DDX6 BRAF NEU1 PCDH19 PDHA1 PRUNE1 HBA2 PSAP SNAP29 GABRB3 LARGE1 CEP120 WDR73 NIPBL SNORD115-1 POMK SRPX2 ACO2 PHF6 ACADS ACOX1 ATP1A3 TPM3 RPL10 DBT KCNB1 WDR11 MTRR PEX2 PGM3 POMGNT2 WAC STAG2 STXBP1 PSMD12 DNM1 ADSL NDUFA1 ITGB6 SON NSUN2 B3GALNT2 PIK3CA SLC17A5 ZNHIT3 CAMTA1 SIL1 IFT81 SFXN4 NARS2 CA8 RNASEH2C STXBP1 TIMMDC1 UGDH ATIC BCS1L TRMT1 CHRND H1-4 DCPS GRIA3 LONP1 SHOC2 RNU12 SC5D PNKP LMNA RYR1 TMEM231 SURF1 ARV1 TRNW AP3D1 BCKDHB DHPS PEX6 TPM2 PEX2 ZIC2 WARS2 SC5D COQ8A PRMT7 CTCF GTPBP3 PGAP1 KCNC3 GLDC KCNJ10 ZIC1 GPC3 NDUFAF3 AP3B2 PEX16 EFEMP2 PPT1 B3GALNT2 PDSS2 MFF NDN ALDH6A1 COG5 TRMU SOX10 TNXB OSTM1 HADHA ACADVL TRAPPC4 PTCH1 LEMD3 TPM3 GLI2 GLI2 SLC6A3 EDN1 TRRAP CHST14 ALG6 BOLA3 SLC12A6 NDUFA6 SLC25A4 STIM1 DOCK7 DHCR7 ZMIZ1 CLTC CHD4 SNRPN RBM10 KDM6B FKTN SPEG MRAS PRNP STT3A KCNMA1 INPPL1 ARX MAN2B1 LRP5 KRAS PTDSS1 SH2B1 CDC42 TASP1 SPTBN2 CDH2 NODAL DGCR6 LCA5 ANK3 ACAT1 COL12A1 NDUFB3 KAT6B ACTA1 NDUFB8 KIF1A DHX30 RTTN CHKB CDK19 MED25 PEX10 SELENON COG1 COG4 PTPN23 GABRG2 ACTL6B SMS RREB1 KPTN MED25 CEP57 FKTN TBCE ZNF592 CPLX1 CEP41 PIGC ZNHIT3 TBX1 PIGT ALG1 CNTN1 CASK TUBA1A PCBD1 ADCY5 GCH1 NRAS PIK3CA KIAA0586 COLGALT1 ATP6V1B2 PTRH2 AMMECR1 ZSWIM6 DLAT COX20 KDM5C PEX3 GCDH KLHL41 RAI1 RMND1 STAG2 MED13 AP1S2 MRPS16 BRPF1 ND1 PNPO SCN2A CCDC78 PTRH2 NDUFS3 PIGL FKTN NDUFAF2 REPS1 KAT6B ACTL6B KANK1 CPT2 FGFR1 SLC45A1 GATAD2B CLCN7 SLC25A46 ASPA NUP133 ERCC3 MED23 NOTCH3 SCO2 PTCH1 POMT1 ATCAY OTUD6B CHRNE RIN2 PNPLA8 AHI1 MACF1 CHRNE RAI1 HIKESHI SCN1B TMEM67 PEX10 PI4KA MYT1L ARID2 HDAC8 COL2A1 EPCAM FOXE1 ATP6V1A SPATA5 TDGF1 KAT6A DGUOK IQCB1 NFIX PSMD12 ZNF462 MAST1 CAMK2G HLCS TRPS1 NEU1 UBA5 ACADL ATP2B3 COL5A1 ATRX MMAB POLG2 ATP8 PSAP ACAD9 CLTCL1 SLC25A3 USP9X CPT1A GABRG2 NDUFB9 TGIF1 ARID1B PSMD12 UBR1 POLG2 ACTA1 PIGN GAA UBE3A GRIN1 CSPP1 FKTN SUCLG1 CAD GFPT1 VPS51 RASA2 BDNF HMGA2 THOC2 DHX16 LTBP4 GM2A SKI ACTA1 RPS20 SCN9A KCNA1 INPP5E BPTF AP4S1 FKTN NDUFS2 LAMB1 SLC2A10 SSR4 COMT IFT140 INPP5E ASAH1 DYNC1H1 NEB ACY1 NDUFB3 CTNND2 CACNA1A MVK COL6A3 PAX8 B4GALT1 BRAF PIGV ATRX FKRP TPM2 PIEZO2 MED13L SLC25A15 NDUFS8 PTCH1 FGF12 POMT2 UBA5 PHKA2 GABRA5 TBC1D20 DENND5A PAFAH1B1 FOXH1 PEX6 HADH MBTPS2 FLII RYR1 ATP6V1A PHKG2 COL1A1 CDKL5 MED13 SMARCA4 VPS13B TCTN2 NDUFAF5 KCNK4 ITPR1 AP2M1 ARSA PMM2 BRAT1 CLIP1 ALPL KCNQ2 RAB3GAP2 STAT3 TRIM37 PEX26 MKS1 TNIK SRD5A3 DLL1 DYRK1A LGI4 SHH SGPL1 EP300 TREX1 ITGA7 ATP7A MSH6 LSS TBCK C2CD3 FGFR1 SIN3A BUB1 ALDH5A1 PDE10A SARS1 GABRG2 PC CEP41 POMT2 ARID1B NDST1 SELENON NUP133 PEX6 LIPT1 POMGNT1 ACSL4 IQSEC2 MICOS13 GRIN2B SOX5 ATP6V1A BIN1 KCNJ11 ASPA DLL1 TUBB HIRA IER3IP1 SARDH GMPPA NHLRC2 NECAP1 MTM1 TGFB1 TBC1D24 ACADVL TELO2 SSR4 CFL2 MUSK COQ4 MAN1B1 PYCR2 ERCC2 MKS1 SH2B1 ZIC2 CDC42 LMNA CAMTA1 PSAP NONO FAT4 DPM2 DMXL2 ACADM COL5A1 LINS1 PNPLA6 POLG MYO18B UBTF LAGE3 SPTAN1 YWHAE USP18 BMP2 SIX3 BPTF ACTL6B CYP27B1 DIAPH1 KMT2E TIMM50 GMPPB TMEM199 MTOR EED GNPAT TMEM106B KAT6A ALG3 TAF1 STRADA ARL3 SYT1 BMP2 PAK1 QRICH1 RNF125 PNPT1 CRBN TPM2 PTEN MTRR EXOSC3 NKX2-5 MTO1 TUFM DLL1 ACTA1 DEAF1 LARGE1 MANBA MECP2 ELN KMT2D PPP2R5D WARS2 CASK RYR1 NMNAT1 TRNL1 KLHL41 RYR1 JMJD1C IARS1 TRNT1 ARHGEF2 FRRS1L ZMIZ1 CREBBP GMPPB HECW2 DIS3L2 AGA HRAS HYLS1 TSHR KIAA0586 SIX3 SDHA AHDC1 GTF2I MCCC1 SYNGAP1 PCDH12 IRF2BPL MN1 CRPPA SOX4 SLC26A4 MFF SETD5 KLHL41 ACAD8 ATP6 MGAT2 GABRD LAMB2 ERCC4 KLHL41 MOGS CEP104 GTPBP3 TCF4 VPS53 NALCN RAPSN PEX2 SCN3A OTUD6B COQ7 LRP5 ZNF469 MPI MMAA VPS33A SLC5A5 B4GALT7 RET PEX2 MBOAT7 EPG5 CYFIP2 FKRP NDUFAF5 PEX13 ACTA1 CUL4B SLC1A4 GMPPB SHH CHD3 SDHD MARS2 TBL1XR1 B4GALT1 ND6 DDX6 PSAP TRMT10C DEAF1 ATP6V1E1 TRNE ATXN2 ITCH PEX26 ATP1A3 TWNK IDUA PMP22 NDUFAF3 GABRB1 NDUFS4 MSTO1 KCNQ2 FGFR3 LIPT1 FH GRIN2A CDON KLHL40 NCAPG2 YY1 DUSP6 SLC25A3 AHI1 SPATA7 MECP2 FGFR1 PLAGL1 CREBBP NDUFAF2 TBX4 PDSS2 RARB DALRD3 PRDM5 FMR1 GAMT RXYLT1 GATA6 ATXN10 CDKL5 TMEM126B NDP SLC25A26 NDUFAF1 NAA10 ATP7A DCHS1 AASS INPP5K GRIN2D LTC4S WASF1 EXTL3 EIF2B1 SLC25A19 PRODH ZDHHC9 TPI1 RRAS2 MYO5A PUS3 ADARB1 SOX10 PYROXD1 MED12 NEU1 GNAI3 SLC3A1 VAC14 BIN1 NDUFA10 ATRX TRAPPC11 PLCB1 AUTS2 NFIX PEX12 NDUFS7 NEK1 RPL10 B3GALT6 SLC25A42 POU1F1 SEMA3A SMARCD1 CNTNAP2 ABCC8 ZC4H2 PCGF2 CHRND SLC1A2 TRMT1 C19ORF12 PTCH1 DLL1 ATP8A2 SYNE1 LMX1B NDUFS3 TRAPPC9 PUS3 RSPRY1 GJC2 TCF4 RNASEH2B FKTN PIGY NEU1 GPT2 NEXMIF PGAP3 NDUFA9 SLC1A3 ND2 KCNJ11 TECPR2 FIG4 SLC1A2 NUBPL SAMHD1 MSL3 PLCB3 KPTN BICD2 PIGY ATP7A FARSB YME1L1 CHD1 PACS1 AHI1 CWF19L1 CCDC141 PEX14 GORAB COX15 SCN9A PHF21A TRMT5 RB1 MLH1 NALCN KCNN3 GMPPA SPART PNPO UQCC2 PAM16 OXR1 GABRA1 KIFBP BRWD3 SDHA DNM1L KCNH1 TCF20 SLC25A10 AMPD1 AMMECR1 TMEM138 PARS2 IQSEC1 ADNP FKRP GRID2 GNB1 NACC1 PAX6 KCNN3 RDH12 SLC5A7 NDUFV1 SCO2 TBR1 CD96 NDST1 GALNT2 MCOLN1 NEPRO AP4B1 SLC52A3 CLIP2 PIGT PIGS FGFR3 CLP1 ODC1 MED12 IARS2 CEP120 BAZ1B RSRC1 PRSS12 AP4E1 METTL5 P4HTM CSF1R TBCE SLC25A1 UGP2 TPM3 ETFB EBP SIX3 ARSA BCL11B FKRP EBF3 TTN B4GAT1 TMEM70 PLEKHG2 VRK1 MTM1 FASTKD2 SLC6A3 KIAA0586 ATRX OPHN1 ATRX FGF12 EP300 HESX1 GRIN2D SLC39A8 PAFAH1B1 GLE1 ATXN7 ABCC8 GLS SLC35C1 B9D1 CDON ADGRG1 RD3 OPHN1 TSEN2 KMT2A PDHA1 CCDC22 MAGEL2 TBC1D24 CEP290 INSR IGF2 NRAS NPC2 PARS2 TAF6 WDR45B HNMT MED12L PDP1 MYT1L NDUFS8 MYPN ZIC2 HACD1 TBC1D24 FOXRED1 MPLKIP AHCY NSMCE3 FXR1 SUFU CCDC22 GPX4 GRM1 ST3GAL3 NONO ITPR1 DAG1 ASXL3 EXT2 HADHB SPTBN4 COL6A2 MYMK NDUFB10 GPAA1 COG1 NDUFS4 HUWE1 POLG COQ9 ACTA1 GABRD TRAPPC9 POMK AIPL1 VMA21 AP4S1 LMBR1 KCNAB2 SNX14 SLC18A2 POMGNT1 GCK NDNF ACOX1 HDAC4 ND5 PTCH1 FOXRED1 MYPN ADNP PDHX PEX16 HADH TRPS1 RAB3GAP2 SHH FIG4 WNK1 DMD TREX1 ELP1 C2CD3 GLI2 IQSEC2 PNP KIF22 SLC39A14 SCN2A FOXG1 ARX SUOX CHRNB1 PRMT7 CCDC115 KISS1R KCNJ13 DDR2 FUT8 GFER UNC80 NDUFV2 TBX1 UQCC3 WAC WWOX MPC1 EIF2S3 PEX14 PPA2 PACS2 PRKD1 GPX4 BMPR1A CNTNAP1 IYD SLC6A19 SKI ERCC2 COG6 ASXL2 CYFIP2 MMADHC SLC45A1 QARS1 COG7 YWHAG COG8 KCNK9 MRPL12 RAI1 CBL EIF2B3 CC2D2A MPZ KDM1A SIK1 SOX10 CNKSR2 TMEM237 SEMA4A SNIP1 TECPR2 KCNH1 IPW HEPACAM NGLY1 PIEZO2 PPP2R5D COG8 TNFRSF11A INTS1 CACNA2D2 ATXN2 PDHB BCORL1 PEX5 SLC35A3 TET3 ALG9 NSD1 ITCH PNPLA2 WDR73 SLC16A2 MAMLD1 FOXP1 GNB5 ATXN1 TACR3 EIF2S3 KCNQ5 TMEM237 FGFRL1 AMMECR1 SUMF1 KCNK9 MTMR14 ND2 POLG CREBBP MYMK HTT KCNMA1 CWF19L1 NDUFAF2 LMNA VARS2 GCSH MTFMT HACE1 PAX8 NADK2 DISP1 PUS7 CHAMP1 AAAS CRX NTNG1 FAM126A FOXP1 NAA10 KDM3B KIDINS220 NODAL CNOT2 TSHB ATP6 ERCC6 FMN2 EGR2 KAT6B CHRNA1 CHRNB1 NDUFB9 RFT1 KCNH1 CPT2 IQSEC2 UGT1A1 TRAPPC12 HMGCL PMS2 COA8 MCCC2 TOE1 STXBP1 MBOAT7 RNU4ATAC ZEB2 SIM1 TANC2 EFL1 MPDU1 CHRND RNF13 ARFGEF2 GNAO1 PPP1R15B ABCC8 FBXW11 CANT1 TPK1 SDHB DPM1
Protein Mutations 0
SNP 0