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 NCT00716014

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

A Single-Center, Placebo-Controlled, Rising Dose to Tolerance and Safety Study of TD101, an siRNA Designed for Treatment of Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare, autosomal dominant keratin disorder affecting the nails, skin, oral mucosae, larynx, hair and teeth. Pathogenic mutations in keratin K6a, K6b, K16 or K17 act via a dominant negative mechanism, leading to manifestations of the disease. The most disabling PC symptom is a painful plantar blistering and keratoderma that requires use of ambulation devices in more than 50 percent of patients. Despite our understanding of the molecular basis of PC, current treatment is limited to mechanical removal of the thick calluses, non-specific topical keratolytics, and oral retinoids, none of which alleviates blistering or plantar pain satisfactorily. A public charity, PC Project, has been founded to support the development of treatments for PC (www.pachyonychia.org). In collaboration with this charity, a small company, TransDerm, Inc., has developed a small interfering RNA (siRNA) that specifically targets a mutation in one of the PC keratins, K6a. As this siRNA targets a single nucleotide mutation, it will only be effective against PC subjects harboring this specific mutation. There are currently only six known patients who carry this mutation in the International Pachyonychia Congenita Research Registry, but three of these patients live in Salt Lake City (a mother and two of her children). We propose to perform a Phase Ib clinical trial to test the safety and tolerability of TD101 in PC patients carrying an N171K mutation. We will complete treatment of the adult patient prior to recruitment of the minors.

NCT00716014 Pachyonychia Congenita
MeSH:Pachyonychia Congenita Nails, Malformed
HPO:Abnormality of the nail

2 Interventions

Name: TD101

Description: TD101 is injection into a callus on the bottom of one of the patient's feet
Type: Drug
Group Labels: 1

Foot 1

Name: Normal saline (placebo)

Description: A normal saline solution (placebo) is injected into one of the patient's feet.
Type: Drug
Group Labels: 1

Foot 2


Primary Outcomes

Measure: Determine safety/toxicity of TD101

Time: 18 weeks, followed by 3-month wash out period

Secondary Outcomes

Measure: Determine efficacy of TD101

Time: 18 weeks, followed by 3-month wash out period

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 N171K

We propose to perform a Phase Ib clinical trial to test the safety and tolerability of TD101 in PC patients carrying an N171K mutation. --- N171K ---

Inclusion Criteria: - A positive genetic identification of the N171K mutation in the keratin 6a gene from a CLIA certified laboratory; - Witnessed, signed informed consent approved by Institutional Review Board/Ethics Committee; - A signed Health Information Portability and Accountability Act (HIPAA) authorization form which permits the use and disclosure of patient's individually identifiable health information for those enrolled in the United States of America; - Male or female subjects of any race 10 years of age and older; - Complete physical examination and medical history indicating no abnormalities that will interfere with study objectives; - Normal or not clinically significant baseline laboratory tests, including hemogram, ANA, serum chemistry panel, urinalysis, C3a, Bb, and APTT,PT; - Negative pregnancy test (females only). --- N171K ---



HPO Nodes


HPO:
HP:0001597: Abnormality of the nail
Genes 689
RIPK4 ALOXE3 SMARCB1 SOX18 PIGN NXN UBR1 KRT5 LMNA HGD KCNA1 COL7A1 NFKB2 ARHGAP31 LORICRIN PLEC INPPL1 GTF2IRD1 TINF2 TP63 WNT10A KRT81 OFD1 COL7A1 ATP2A2 WNT7A CSTA TRAF6 KRT16 EVC2 ARID2 TRPS1 ARID1B ARX PGAP2 RLIM KRT14 LAMA3 COL7A1 TP63 HLA-C PTDSS1 ANTXR1 EDARADD KRT14 NOG NOTCH2 NOG COL7A1 AKT1 GJC2 KRT14 HPGD GJB2 FZD2 GLI1 KRT14 GNA11 CTBP1 PEPD TGM1 KDM1A EVC2 DLX3 COL11A2 WDR35 PARN IRF6 KRT16 SOX4 SETBP1 COL17A1 TERT KCNH1 RPS6KA3 GJB6 CDSN STK11 KRT1 GDF5 ABCA12 ATP2A2 CLIP2 LAMB3 GJB2 ITGB4 EDAR TGM1 ELN TP63 TBX3 TARS1 KCTD1 TTC7A CLEC7A DYNC2LI1 GLI3 LAMC2 POP1 ZMPSTE24 ADNP TGM1 PEX1 CDH1 FIG4 LAMB3 COL11A1 ELN COL7A1 EDARADD IKBKG PTEN EXT2 IL36RN ARID1B GJA1 NSD1 ACD PLEC PEX6 PIGA TSC1 TET2 PORCN KRT6A TERT SOX11 NOTCH1 FOXP3 SHOC2 ABCA12 CAST CKAP2L EVC2 LIPN FLNB CD28 TRPV3 RSPO4 TSC1 FGFR1 CARD14 SOST IHH FOXC2 KRAS ECE1 GJA1 CTSK WNT10A POMP IFT122 SLC25A24 COL17A1 COL2A1 GJA1 KRT14 KRT5 MVK TRRAP DOCK6 EDAR BLM RNU4ATAC GPC4 FOXN1 KRT14 KDF1 SF3B1 IRF6 TINF2 TERT TNFRSF1B IGF2 IFIH1 MAP2K2 JUP GPC4 EVC2 USB1 ARHGAP31 PKP1 FGFR2 NEPRO GJA1 ACVRL1 MBTPS2 LIG4 RAB3GAP1 RNF13 SRY NDUFB11 CPLX1 KCNH1 ALOXE3 CTC1 GSN FLNA HRAS IKBKG ARX ARID1A NHP2 HRAS GJA1 FLNB MAF AAGAB DLL4 GJB2 ACD PPM1D TINF2 LMNA ALOX12B HUWE1 RPS6KA3 HOXA13 GJB4 LAMA3 TAF1 FGFRL1 DPH1 DHX37 SIN3A CYB5R3 STXBP1 WNT7A COL7A1 COL7A1 MSX1 COL7A1 WDR73 ABCA1 PNKP STING1 TREX1 EDA AIRE INSR DLL4 MBTPS2 ZSWIM6 BHLHA9 SMARCAD1 TP63 DOCK6 LMX1B GPR101 KIF1A DNAJC21 ZMPSTE24 LBR AP1B1 SLURP1 ZBTB20 KCNH1 KRT5 PLEC SCN9A TBC1D24 CYP4F22 DMXL2 SLC39A4 KIF15 FIG4 ATR ATP6V1B2 CTSC KCTD1 POLR3A IFT52 MSX1 SMARCA4 ALG3 MBTPS2 NTRK1 EVC ROR2 DPF2 KIF22 TGM1 HFE NOTCH2 STIM1 KANK2 PORCN CTLA4 UBE2A GJB6 EZH2 PIGV RETREG1 IFT43 CSTB ZSWIM6 RERE WNT7A GPC3 WNT5A EVC CASK TCTN3 KRT85 ZMPSTE24 ODC1 POLR3A PIGW MMP1 NECTIN4 DVL1 LAMC2 EED SIK1 FLT4 TP63 CDKN1C COL7A1 ENG SOX11 PLEC PEX7 NPM1 KRT83 SASH1 FGF9 TSC2 ANAPC1 PPP2R5D TP63 APC DSP IFT43 CWC27 PPP1CB TSC2 TP63 NIPAL4 MAPK1 SOST IFNG IL17RC FLT4 UMPS PLOD3 WNK1 ABCA12 PHYH SLCO2A1 TRPS1 ANAPC1 DSP ALOX12B NSUN2 FERMT1 JUP BRAF EOGT RTL1 COL14A1 INSR LAMC2 DYNC2LI1 KRT5 SLC39A4 SCN9A APC2 MACROH2A1 TP63 ODC1 LMX1B COL7A1 ITGB4 VEGFC KRT5 IFT122 ARID1A RSPO1 TP63 COL7A1 NSD1 DSG1 KCNN3 FOXN1 SULT2B1 RECQL4 COL7A1 SDR9C7 SHANK3 DLX5 PLEC KRT1 PGAP3 TBL2 FERMT1 IL11RA ZBTB20 EVC KRT5 STAMBP PRKAR1A PLEC EZH2 KRT74 POC1A HCCS TINF2 NOTCH1 TNFRSF1B MPLKIP PARN SATB2 RFC2 FUCA1 KDM1A LAMC2 NSD2 IL17F LAMA3 SLURP1 LIMK1 NOP10 ITGA3 WRAP53 PIGL BMP4 MPLKIP TRPV3 LMNA B3GALT6 DSG4 LAMC2 NOG SMARCD2 RIPK4 CRKL PERP CDKL5 GDF5 TBC1D24 WDR35 CTSC BMPR1B PIGO VAC14 IL17RA KRT86 MCTP2 WNK1 CD151 COL7A1 CERS3 NEUROD2 TRAF3IP2 RNF113A MBTPS2 CARD14 PIGP NOP10 LAMA3 FAM111B KDSR FZD6 ADAM17 MAP2K1 KRT83 KRT17 INSR SMARCC2 AFF4 KRT5 LMNA GJB6 ERCC2 RAB3GAP2 FTL TFAP2A VEGFC PRKD1 COL11A1 PEX1 DVL1 ABCA1 TERC KRT86 DSG1 ITGB4 DSP RAB3GAP2 RTEL1 TSC2 GPC3 KCNN3 PIGV ATP2A2 CTSK GJB2 COL7A1 LRP4 EFNB1 RNU4ATAC STAT3 ITGA6 LMNA EBP EOGT NECTIN1 COL7A1 GLI3 SREBF1 COL17A1 TAT LRP4 GDF5 TSC1 SLC35D1 SMARCE1 PIGB WDR19 ITGA6 HMGA2 ATP6V0A2 RAB7A COX7B KCNH1 GJB3 CDIN1 EGFR UBA1 SRCAP PLAGL1 LMNA TRIM8 KRT6B CCDC22 EVC CASR ZMPSTE24 SMARCE1 TFAP2A WRAP53 HYMAI PDE4D PLAG1 GTF2I SCN2A DKC1 RTEL1 SHANK3 LMX1B ALOXE3 NOG LAMB3 EFNB1 ACTL6B RIPK4 GJB2 NHP2 ACTG2 RUNX2 EED GTF2H5 FHL1 TERT FTO CYB5A RECQL4 ATP6V1B2 PLCD1 KIF11 ALOX12B UBE2A LAMB3 AIP SCN1B PIGY PITX1 PNPLA1 WNT10A STXBP1 NSDHL LRP4 PLCD1 SETD2 CTLA4 SMARCD1 KRT1 PQBP1 EDARADD TELO2 ROR2 KRT14 COL17A1 SLC25A24 KRT17 DKC1 KRT14 KRT6A SMARCAD1 KRT14 CD28 CTC1 CAMK2G RIPK4 UROD RBPJ WNT5A KRT14 BMPER CPT2 ACAN DPH1 DLX3 SLC25A22 LETM1 COL7A1 TBX4 DST BMP2 NLRP1 KLHL24 ZNF462 KRT6B GRHL2 MBTPS2 HEPHL1 IHH CENPT WHCR GPC4 GPC4 NPR2 TERC NSD1 FGFR2 MMP1 KRT9 MLXIPL MEG3 TINF2 ORC1 DPM1 PIGN DSP AIRE PARN NFKB2 HOXC13 KIF1A BCR RETREG1 DKC1 DLK1 ITGB4 DVL3 GNAO1 GTF2E2 PEX6 DSP NHP2 ITGB4 BAZ1B KRT16 ATL1 LPAR6 EDAR FOXN1 PKP1 ATP6V1B2 KRT81 ERCC3 RTEL1 KRT5 WASHC5 NIPAL4 ERCC2 NECTIN1 LAMA3 AP1S3 ROR2 DPF2 SUZ12 ADAMTSL2 PIGQ ADAM17 KDF1 COL7A1 SHOX SREBF1
Protein Mutations 1
N171K
SNP 0