SNPMiner Trials by Shray Alag

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


Report for Clinical Trial NCT00623220

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Randomized Controlled Trial on the Effectiveness of Inhaled Nitrous Oxide for Pain Relief During ROP Screening Exam in the Pre-term Infant

The primary objective of the proposed study is to show that inhaled equimolar mixture of oxygen and nitrous oxide (EMONO) will reduce pain associated with retinal exam in the preterm infant, as compared to the current standard treatment (oral sucrose and topical anaesthesia). The investigators also aim to show that EMONO can be used safely in preterm neonates undergoing retinal exam, and will not result in any increase in apnea, bradycardia, or desaturation in the 24 hours following the exam. Finally, the investigators aim to show that EMONO will keep the infant calm, and make retinal examination easier and less traumatic.

NCT00623220 Retinopathy of Prematurity
MeSH:Retinal Diseases Retinopathy of Prematurity Premature Birth
HPO:Abnormal retinal morphology Premature birth Retinopathy

2 Interventions

Name: N2O

Description: EMONO
Type: Other
Group Labels: 1

A

Name: oxygen

Description: oxygen
Type: Other
Group Labels: 1

B


Primary Outcomes

Measure: The primary objective is to show decrease of pain response in the treatment group as measured by the PIPP (Premature Infant Pain Profile) score

Time: PIPP score before, during and after eye exam

Secondary Outcomes

Measure: Heart and respiratory rate will be monitored using one of our NICU integrated monitors. Continuous pulse oximetry will be performed with a Masimo Radical pulse oximeter.

Time: during 48 hours

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 V29C

Heart and respiratory rate will be monitored using one of our NICU integrated monitors: Draeger Infinity Gamma XL (Draeger Medical Canada Inc, Richmond Hill, ON), or HP Agilent V29C/HP 895 (Hewlett Packard Company, Palo Alto, CA). --- V29C ---



HPO Nodes


HPO:
HP:0000479: Abnormal retinal morphology
Genes 1557
NR2E3 ND4 CHEK2 RSPH4A GUCY2D TXN2 PRPH2 ND2 POMT1 ZNF408 TERC GRN KIAA1549 EEF1A2 RD3 GP1BB COL2A1 CRYAB RET SEC24C PROM1 IMPG1 TRNL1 GNB3 NELFA CDH3 CHN1 PEX11B PEX11B OFD1 BLK WWOX ARL6 C8ORF37 PCYT1A PRPF4 SYCE1 ERCC1 TTC21B IKBKG GTF2E2 PEX10 DAG1 POLG NDP IFT140 RHO DGCR8 SMCHD1 USH2A NECAP1 TMEM98 GLB1 OPN1LW TSC2 RP1 PRPS1 MSTO1 C12ORF57 RET RNU4ATAC ND2 XYLT2 SDHB NEK1 FLNB LZTFL1 CABP4 KIF11 PUF60 HADHB SEMA3E CDHR1 LYST FKRP ZNF408 GDF6 LRRC56 CHM SLC45A2 MFRP LETM1 POMGNT1 COL4A1 CACNA1F WDPCP ATP6V1A PEX19 PEX3 PANK2 TERF2IP BBS12 TTLL5 PEX13 PRPF8 RIMS2 KCNV2 MGMT UNC119 IFNG SLC13A5 GUCA1B PEX19 USP45 PTEN DHX38 VPS13B DNAJB13 NR2E3 TYR OFD1 IFNG HHAT SURF1 JAG1 RRM2B TACO1 UBE3B COL4A1 SALL4 CFHR1 MKS1 ND5 DYNC2H1 MERTK BLOC1S3 PRPF6 FGFR1 RPGR PRDX1 HPS5 TRNV RBP4 RB1 PEX14 DNAAF4 TENM3 TUBB KMT2E ARHGEF18 LPL GABRG2 ALDH3A2 NPHP4 XYLT2 COL18A1 STXBP1 TPP1 COL11A1 RIMS1 ERAP1 ADAMTSL1 MTFMT CLRN1 ATP6 TMEM231 PRTN3 TBX1 NTRK2 TRNF B4GAT1 COL2A1 DYRK1A BCOR TMEM231 HEXB IL12A NOD2 PLK4 HCN1 DNAJC21 TRNT1 DUX4 PDE6C PCDH15 BAP1 GPR179 NDUFV2 IDH3B IMPDH1 EXOSC2 TERT ZEB2 BBIP1 RPL10 C8ORF37 LRIT3 PEX7 BEST1 CAV1 TRPM1 GAS8 NTNG1 LAMA1 APOB RPGRIP1 PAX2 CCDC40 SDCCAG8 DAG1 TMEM127 ARL3 TREX1 PLOD1 NF2 COL11A1 COA3 SACS SDHAF2 NEK2 COL4A1 PRPF3 RDH12 BBIP1 MIR140 SAG BBS2 KCNJ13 TULP1 CTSA LMNA CERKL C1QTNF5 CDH3 SLC35A2 IDUA TRNL1 ABCC6 IQCB1 SYNGAP1 SF3B1 PPP3CA ESS2 DRC1 TTC8 NDUFS2 COX7B PEX12 SCAPER GDF2 DNAH5 AGXT ACTL6A CEP290 HCCS APPL1 OPN1MW GMPPB TRNQ TRIM32 RFC2 PRCD PMM2 BBS5 SLC7A14 AP3D1 ND5 LAMA1 TRNS1 GNPTAB CTSA SEMA3E FOXE3 ABCA4 CCNO HK1 ETHE1 CTNNA1 PEX19 PEX12 ABHD12 TMEM127 FGF3 CDH3 INS CC2D2A BAP1 CENPF CEP83 PEX14 PGK1 PAX6 CRX VHL NDUFAF5 SLC25A11 COL11A1 ND1 NDUFS4 MYD88 SMAD4 MTTP TMEM216 AIRE NDUFB8 SDHA WFS1 COA8 PEX1 PEX12 MYO7A MAB21L1 ZNF423 AGBL5 CC2D2A ADAM9 COX10 RNF216 HSPD1 ARMC9 WASHC5 GALC RERE MKS1 PRPH2 MKS1 ACVRL1 DNAI2 AKT1 ND4L RPE65 DEAF1 PEX2 HADHA PIGL DALRD3 XYLT1 PEX12 DLST CFAP410 ABCA4 LRP5 SDHAF1 GDNF RAX2 CTNS GNAT2 PET100 WDR19 RAB3GAP1 ISCA1 SLC24A5 OFD1 CERKL NYX PEX6 TRNW PROS1 RHO AHR RPGRIP1L TRNK CEP120 COL9A2 INPP5E MAF ANO10 SDHB TMEM67 INSR RPGRIP1 PNPLA6 TUBGCP6 CEP290 ARL6 ATF6 SEMA4A NDUFAF1 EPAS1 PHYH CEP290 BEST1 RHO LARGE1 OFD1 PAX6 RSPH1 VCAN TUBGCP4 TINF2 SVBP PDE6G COL2A1 RMRP GNB5 TNFRSF11A RDH11 ENG PEX1 IQCB1 ABCA4 POGZ TRNL1 PEX11B NR2E3 PROM1 DNAH9 FAM161A CRX SDCCAG8 LRAT RPGRIP1 CNNM4 COX10 PRPF4 SCN8A SMCHD1 RP2 POMT2 COL11A1 PIEZO2 BCOR HADHA VHL TOPORS MCOLN1 ARL2BP KIF11 KCNJ11 RLBP1 MLXIPL CEP290 WRN SLC37A4 RAB18 GNAQ PEX5 ZEB1 ND1 XYLT2 ODAD4 BBS2 ALDH1A3 RLIM CNGB3 TMEM98 ZFYVE26 RAX2 CNGA3 PEX13 WDR19 CEL RB1 GUCA1A PRF1 NPHP3 AIPL1 TCF20 LARGE1 UFD1 MKKS GMPPB AKT1 RNU4ATAC CCDC65 B3GALNT2 GABRB2 DRAM2 G6PC EDN3 PTCH1 OCA2 ABCA4 TMEM67 INPP5E RCBTB1 ARL6 LRP2 LRP5 GRM6 RPGR SCO1 REEP6 RS1 TMEM216 ACTB CACNA1B MAK SAG SDCCAG8 DHDDS CLN6 TYR CFHR3 CABP4 CEP164 CP IDH3B ARL6 ALMS1 INVS TMEM107 PDZD7 PEX26 DNAAF5 PSAP GABRA5 NPHP1 CHST14 WRN WDFY3 RNF216 TRNS2 NDP SDHB RPGRIP1L CEP41 OPA1 TULP1 TMEM107 TMEM138 SDHA DPM1 IDUA NMNAT1 CYTB ND1 ZEB2 TUBGCP6 RDH12 ND5 MYO6 RAB28 CSPP1 MAFB BMP4 PEX3 PANK2 COX6B1 MFSD8 UBAC2 COX1 HNF4A RAI1 LRP5 ADAM9 NGLY1 TMCO1 GPR179 NME8 HEXA PEX1 GUCA1B COL2A1 NPHP4 MMACHC MORC2 ALMS1 TRAF3IP1 ERCC6 EYS FKRP POMT1 PUF60 ASAH1 KIAA1549 FLVCR1 DGCR2 DOCK3 LRIT3 SUMF1 CSPP1 USH1G CYTB BBS5 PEX6 DDR2 LRAT POLR3A POMGNT1 PRPF6 RET MKKS CLTC SERPINC1 HSD17B10 RPS6KA3 KCNB1 CDKN2A PRPH2 FTL NDUFA12 SDHD CTNNB1 ATF6 CSPP1 CBS PRPH2 SDCCAG8 FZD4 NDUFA4 ALG12 GUCY2D MFSD8 DHDDS STN1 GGCX OPN1LW USP45 AARS1 PDE6H OVOL2 EFEMP1 HLA-DPA1 CHD7 RPGRIP1 RSPH3 SURF1 CNGA1 ARL13B PEX16 OTX2 NDUFA2 COX7B ND3 PEX1 TRNN KLRC4 TYR IFT80 TSC1 ARL3 TRNK PDCD10 PNPLA6 COL9A3 NDUFAF6 CLCNKB CTNS OAT HLA-B ARHGEF18 IFT172 FBN1 TMEM216 NDUFS1 ATP6V0A2 ZNF423 CRX ARVCF ERCC5 SLC7A14 PEX16 DNM2 C8ORF37 CRB1 HK1 NYX POGZ NDUFS2 KLHL7 FH NDUFS8 SIM1 SDHD KRIT1 ND4L PITPNM3 CRB1 CCDC103 PEX26 AP3B2 ERCC5 CNGB1 CACNA1A RHO BEST1 CLCC1 PRCD FSCN2 FAM161A FLNB DRAM2 CACNA1F POMGNT1 ELOVL4 KRIT1 CTSD DNAH11 SAR1B TCTN2 KIZ PRPF31 TRIM44 KIZ IL10 COX3 SMPD1 IMPG2 PAX4 ECHS1 WWOX PEX13 BEST1 COX8A SAG GBA RP1L1 NDUFB11 ATP6 ND6 CACNA2D4 RS1 IMPG2 SDHAF1 PAX6 HACE1 ERCC6 SLC24A1 CC2D2A PRSS56 SDHC GNAT1 DHDDS POMK CRB1 PEX3 SLC19A3 PANK2 MPDZ PDE6D CFI BBS1 GTF2IRD1 TET2 SH3BP2 SLC25A15 KLHL7 NUS1 KCNA2 MAX PDX1 CACNA1F POMT1 STAT4 POMGNT2 GATA3 PCARE PEX1 RPGRIP1L SBDS SZT2 HMCN1 MKS1 TACO1 CLN3 TULP1 RPGR HGSNAT PDE6B CCND1 TLR4 ERCC8 ETHE1 ARV1 LRRC6 RAB28 RPE65 PORCN P3H2 DNAI1 IDH3A CDH23 PEX16 FBN2 OPN1LW BBS4 C4A IFT88 SMPD1 ELN HADHA TSC2 KLHL7 PRPF8 LPAR6 IMPDH1 CACNA1F OPN1MW RRM2B RNF113A ESPN LIPH TBL2 CIB2 PGAP1 POMT2 PEX10 IFT74 PRPH2 OPN1MW PEX5 GTF2H5 PLOD1 IDS IFT27 IKBKG COL9A1 GCK TRNE KCNA2 NDUFA10 PEX5 CLCN2 LIMK1 RPGRIP1 HLA-DRB1 BBS10 TP53 COX15 MITF ABCC6 SALL1 RP1L1 TARS1 DNAAF2 NSD2 SYNJ1 BMP4 BEST1 CLDN19 KRT71 SEMA4A HLA-DPB1 CDHR1 TRAF3IP1 AP5Z1 CTNNB1 VHL POMK DNAAF6 IFT172 OCRL POMT2 CA4 CLRN1 GRM6 TMEM67 PRPH2 LRP2 PCDH15 FBXW11 CHST6 MYO5A KRAS PDE6A LYST NEUROD1 CNGB3 SELENOI RLBP1 CRB1 MYOC CACNA2D4 CTLA4 GABRA2 GUCY2D RLBP1 GZF1 SAG TUBB PET100 GNAT1 PDX1 TRAK1 COL18A1 EPG5 BCS1L COL11A1 TREX1 BCOR TRNH KIF1B B3GALNT2 PTPN22 DNMT3A TIMP3 POMGNT1 HGSNAT GM2A CRPPA RNF113A WDR19 HNF1A RPE65 RHO TTC8 OPN1SW ERCC4 NDUFV1 PEX1 PAX6 CACNA2D4 VHL BLM CYSLTR2 ROM1 COX14 AMACR PPP2R3C GGCX SHH NDUFA13 SELENOI RP1 CCDC39 NEU1 COQ2 HBB POU3F4 REEP6 ACD HSD11B2 LARGE1 SCAPER MDH2 CA4 GDF3 POMK RP9 ACO2 PAX6 BBS2 ACOX1 PEX2 POMGNT2 WAC ARL6IP6 DNM1 NF1 SLC12A6 CHM PROM1 BEST1 ATP6 CHD7 HLA-B NMNAT1 BCS1L CAPN5 PRPH2 STK36 TMEM231 HLA-A SURF1 ARV1 SDHD FGFR2 SLC24A1 PDE6C PEX6 GNAT1 ZMYND10 PEX2 WARS2 SNRNP200 PTEN TBX22 WHRN TAF2 TTC8 PDE6H B9D2 NDUFAF3 AP3B2 PEX16 PPT1 BBS10 PCYT1A DNAH1 USH2A HADHA BBS2 HMX1 PRPH2 INS TSPAN12 GSS TRAPPC4 ALDH3A2 MCIDAS PRPH2 GNAT2 CFH IVNS1ABP CYP1B1 TUB CHST14 IL23R CFAP300 CTC1 FDXR ND6 FRG1 FKTN COL2A1 CWC27 MAN2B1 GNAQ LRP5 PHYH HFE TUB DGCR6 CEP78 LCA5 IFT122 COL4A1 PDZD7 NEK2 PRPH2 RPGR RTTN USH2A CDK19 PEX10 CST3 ACBD5 MVK COG1 IFT27 SPEF2 RREB1 COL2A1 ABCA4 ND4 LRAT FBLN1 MLX GRK1 TBX1 CEP164 HPS4 RNASEH1 DYNC2I2 SPG11 CC2D2A KIAA0586 GPIHBP1 ZNF408 PTEN CACNA1F LOXL1 COX20 GCDH RAI1 PROM1 MED13 GPR143 ERCC2 DHX38 IFT172 PROM1 LOXL3 POC1B GGCX FKTN SIX6 PNPLA6 WDPCP COL4A1 TMEM67 ACTL6B FAM111A PTPN22 ZNF513 ASPA XRCC4 ERCC3 POMT1 TXN2 LRAT AHI1 PORCN TK2 SLC38A8 GUCA1A RAI1 TMEM67 PEX10 MYT1L COL2A1 RAX2 IQCB1 SACS NEU1 UBA5 PCYT1A GUCY2D NAA10 MAX ATP8 PSMD12 CNGB3 BCOR PAX6 FAM111A GALNT3 TSC2 GRK1 HCCS RPGR CYP4V2 DHX16 TTC12 INPP5E BPTF FKTN ROM1 NDUFS2 TFAP2A SDHA COMT IFT140 ASAH1 GUCA1A ARL2BP RXYLT1 BBS1 ABCA4 PRPF31 ANK1 SLC25A15 CDH3 ACTB CCM2 TEK C12ORF57 TBC1D20 CCDC28B ABCC8 PEX6 PAX2 HADH FLII NRL PDE6G RBP3 MDH2 SALL1 VPS13B YAP1 PMM2 RHO COX3 CLDN19 COL2A1 CEP290 ELMO2 IMPG2 STAT3 DNMT3B TRIM37 PEX26 CRB1 MKS1 SRD5A3 IFT140 ARSG RP1L1 EP300 SOX10 CNGA1 CRB1 RPE65 C2CD3 EYS GDF6 CCNQ ARL6 AHI1 CEP41 ERCC3 POMT2 MAK POMGNT1 NEK10 MICOS13 PROM1 ATP6V1A KCNJ11 FOXE3 DPP6 COL9A2 PDE6C PIK3CA CCR1 FSCN2 HIRA RP2 PISD MITF TTC21B PGK1 TELO2 ERCC2 DACT1 FIBP SH2B1 SNRNP200 TTLL5 ITM2B RBP3 MIR204 FBN1 PNPLA6 PAX6 ERCC8 CACNA1F SALL4 ACTL6B PDE6B BBS7 ADAR BBS12 CYP1B1 DYNC2I1 NPHP1 RDH11 C8ORF37 SEMA4A COL2A1 TUBB4B EXOSC3 NDP CFAP410 LARGE1 BBS7 ELN WARS2 NMNAT1 TRNL1 GNA11 TINF2 JMJD1C TRNT1 ODAD1 NRL ZMIZ1 COX2 SDHA GTF2I POT1 TNFRSF11B KIF3B ACTG1 APOE PCARE CRPPA COX1 IMPG1 KLHL7 ATP6 WDR19 ERCC4 EDNRB PDE6A HPS6 PEX2 NHS SCN3A ZNF469 BEST1 SALL2 GUCY2D VPS33A BBS9 RPE65 PEX2 ADAMTS18 RLBP1 CYFIP2 PITPNM3 FKRP HYDIN INPP5E SDHD SEMA4A DSE ND6 DDX6 RNU4ATAC B3GLCT ATP6V1E1 MERTK ATXN2 CDHR1 RPGR SPAG1 PAX6 PEX26 NSMCE2 MYOC IDUA APOC2 BBS4 ATXN7 MSTO1 PRPS1 CLRN1 ZNF513 ABCC6 FZD4 LIPT1 SLC19A2 BAP1 TRNS1 NCAPG2 TMEM107 AHI1 SPATA7 CREBBP SPATA7 DYNC2LI1 ABCA4 PRDM5 COX3 RXYLT1 CASK ND4 NDP SLC19A2 ND1 NF2 NDUFA9 NAA10 TSC1 RPGR APOE FBLN5 FLVCR1 GRIN2D CP FLCN ELOVL4 DYNC2I2 BBS9 FOXC1 MYO5A NEU1 CTNS GUCA1A CFH RDH5 TNFRSF11B NDUFS7 FOXJ1 NEK1 NPHP1 PDE6B TMEM67 RP9 SLC1A2 TRMT1 LZTFL1 RPGR CNGB1 ADGRV1 NDUFS3 PDE6B ERCC6 FKTN TEAD1 NEU1 KRT25 NDUFA9 PEPD ERCC8 PRPH2 CDK4 ACVRL1 POMT1 MAPRE2 SLC45A2 MFRP PLK4 KLF11 IGFBP7 SALL4 MAPKAPK3 PEX14 COX15 USH1C DNAL1 RB1 CEP290 DYRK1A IL12A-AS1 PEX7 COL8A2 SDHA IFT172 CNGA1 RIMS1 TMEM138 FKRP RDH12 SCO2 CFAP221 RGR IFT140 PANK2 MCOLN1 CLIP2 BEST1 PRSS56 GUCY2D POMT2 BAZ1B C8ORF37 ATP6 AIPL1 DNAAF3 GAS2L2 UGP2 MTTP WDR19 FKRP TMEM231 B4GAT1 AP5Z1 KIAA0586 FGF12 ATF6 HGSNAT VSX1 KRT74 IFT172 ATXN7 ERCC3 CDKN2B LTBP2 RD3 TTPA PDHA1 CCDC22 MAGEL2 CEP290 CLN5 PARS2 MYT1L GRHL2 MPLKIP CEP290 PCNA PRPF3 USH1C DAG1 HADHB FAS C8ORF37 TRAPPC9 APC AIPL1 GCK SDHD ND5 FOXRED1 KIF5A TRPM1 PROM1 TUBGCP4 ADAMTSL4 MEFV TULP1 ODAD3 IMPG2 NDUFB11 SMPD1 RAB3GAP2 ND4 RLBP1 C2CD3 ASXL1 AHR CRX KCNJ13 ROM1 TBX1 IMPDH1 ENPP1 CFAP410 WWOX FAS GDF3 ERCC2 PIGL TOPORS CLRN1 RBP4 CNGA3 YWHAG NOD2 ODAD2 ZFYVE26 CNKSR2 TMEM237 MMACHC POC1B OAT TRIM32 STUB1 TERT MC1R INTS1 FRG1 ATOH7 CNNM4 TRNW BCORL1 PNPLA6 PEX5 ARL6 GNB5 ND6 DNAAF1 PEX7 SUMF1 ND2 IL12B CREBBP PDE6G NDUFAF2 RBP3 NDE1 APC NDP HACE1 SLC24A5 TTC8 MC1R CRX CEP120 CHRDL1 ERCC6 AIPL1 WT1 RGR RSPH9 CFAP298 ACTA2 KIF1B CEP55 RDH5 VHL IQSEC2 NSMCE2 HSD11B2 COA8 B9D1 IFT140 RNU4ATAC ZEB2 COL2A1 TANC2 ABCC8 SDHB
Protein Mutations 0
SNP 0