Patient advocacy Power to the patient By teaming up with patient advocacy groups we strive to support patients and their families in two ways: connecting them to resources and increasing awareness of genetic testing in diagnosing rare disease. Working toward a better world GeneDx has collaborated with advocacy organizations in various capacities to support their missions – whether by providing testing and research collaborations or by drawing greater awareness to the organization. HERE ARE A FEW EXAMPLES OF OUR SUCCESSES IN THE PAST FEW YEARS: Through the Odyssey and iHope philanthropic programs, GeneDx has provided no-charge exome sequencing and whole genome sequencing to patients who meet clinical criteria and who don’t otherwise have access to this testing. Since 2017, we have helped nearly 300 patients by providing them access to testing; potentially ending their diagnostic journey so time can be spent on their care. LEARN MORE In 2021, GeneDx began our collaboration with CureDuchenne, a leading Duchenne muscular dystrophy advocacy and venture philanthropy organization. Through this alliance, CureDuchenne and GeneDx are providing genomic sequencing test results, for consented patients, to the DMD research community. We would love to design a collaboration with your organization that makes a positive and lasting impact for patients and their families. CONNECTING ADVOCATES TO PATIENTS IN NEED Would you like your organization to be included on relevant GeneDx reports? Complete the form below. NAME OF ADVOCACY ORGANIZATION STREET ADDRESS CITY STATE -- Alaska Alabama Arkansas Arizona California Colorado Connecticut Washington, DC Delaware Florida Georgia Hawaii Iowa Idaho Illinois Indiana Kansas Kentucky Louisiana Massachusetts Maryland Maine Michigan Minnesota Missouri Mississippi Montana North Carolina North Dakota Nebraska New Hampshire New Jersey New Mexico Nevada New York Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Virginia Vermont Washington Wisconsin West Virginia Wyoming -- ZIP WEBSITE EMAIL PHONE 501(C)3 IRS DETERMINATION LETTER AVAILABLE? Yes No 501(C)3 IRS DETERMINATION LETTER AVAILABLE? PRIMARY GENES OF INTEREST (GPR98) A2ML1 AAAS AADAT AAGAB AARS AARS1 AARS2 AASS ABAT ABCA1 ABCA12 ABCA13 ABCA2 ABCA3 ABCA4 ABCA5 ABCA7 ABCA9 ABCB10 ABCB11 ABCB4 ABCB5 ABCB6 ABCB7 ABCB8 ABCB9 ABCC12 ABCC2 ABCC6 ABCC8 ABCC9 ABCD ABCD1 ABCD2 ABCD3 ABCD4 ABCF2 ABCG2 ABCG5 ABCG8 ABHD10 ABHD11 ABHD12 ABHD5 ABI2 ABL1 ABL2 ACAA1 ACAA2 ACACA ACACB ACAD10 ACAD11 ACAD8 ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACAT2 ACBD5 ACBD6 ACCS ACD ACE ACER3 ACLY ACMSD ACN9 ACO1 ACO2 ACOT13 ACOT2 ACOT7 ACOT9 ACOX1 ACOX2 ACOX3 ACP2 ACP5 ACP6 ACR ACSF2 ACSF3 ACSL1 ACSL4 ACSL5 ACSL6 ACSM1 ACSM2A ACSM2B ACSM3 ACSM4 ACSM5 ACSS1 ACSS3 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTL6A ACTL6B ACTN1 ACTN2 ACTN4 ACTR5 ACVR1 ACVR1C ACVR2B ACVRL1 ACY1 ACYP2 ADA ADA2 ADAM10 ADAM11 ADAM17 ADAM22 ADAM28 ADAM9 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAP2 ADAR ADARB1 ADAT3 ADCK1 ADCK2 ADCK3 ADCK3 (CABC1; COQ8) ADCK4 ADCK4(COQ8B) ADCK5 ADCY1 ADCY10 ADCY3 ADCY5 ADCY6 ADD3 ADGRB2 ADGRG1 ADGRG2 ADGRG6 ADGRV1 (GPR98) ADHFE1 ADIPOQ ADIPOR1 ADK ADNP ADPGK ADPRHL2 ADPRS ADRA2B ADRB2 ADRB3 ADSL ADSSL1 AEBP1 AFF2 AFF3 AFF4 AFG3L2 AGA AGBL1 AGBL5 AGGF1 AGK AGL AGMAT AGMO AGO1 AGO2 AGPAT2 AGPAT4 AGPAT5 AGPS AGR2 AGRN AGRP AGT AGTPBP1 AGTR1 AGTR2 AGXT AGXT2 AHCY AHCYL1 AHDC1 AHI1 AHR AHRR AHSG AICDA AIFM1 AIFM2 AIFM3 AIMP1 AIMP2 AIP AIPL1 AIRE AK1 AK2 AK3 AK4 AK7 AK9 AKAP1 AKAP10 AKAP13 AKAP9 AKR1B10 AKR1B15 AKR1C2 AKR1C4 AKR1D1 AKR1E2 AKR7A2 AKT1 AKT2 AKT3 ALAD ALAS1 ALAS2 ALB ALDH181 ALDH18A1 ALDH1A2 ALDH1A3 ALDH1B1 ALDH1L1 ALDH1L2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDH9A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALK ALKBH1 ALKBH3 ALKBH7 ALKBH8 ALMS1 ALOX12 ALOX12B ALOXE3 ALPI ALPK1 ALPK3 ALPL ALS2 ALX1 ALX3 ALX4 AMACR AMELX AMER1 AMH AMHR2 AMMECR1 AMN AMPD1 AMPD2 AMT ANG ANGEL2 ANGPT2 ANGPTL3 ANGPTL6 ANK1 ANK2 ANK3 ANKH ANKLE2 ANKRD1 ANKRD11 ANKRD26 ANKS1A ANKS1B ANKS3 ANKS6 ANKZF1 ANLN ANO10 ANO3 ANO5 ANO6 ANO7 ANOS1 ANPEP ANTXR1 ANTXR2 ANXA1 ANXA11 AP1B1 AP1S1 AP1S2 AP2M1 AP2S1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APAF1 APBA2 APC APC2 APCDD1 APEX1 APEX2 APLN APOA1 APOA1BP APOA4 APOA5 APOB APOC2 APOC3 APOE APOL1 APOL2 APOL4 APOO APOOL APOPT1 APP APPL1 APRT APTX AQP2 AQP4 AQP5 AR ARAF ARCN1 ARF1 ARF5 ARFGEF2 ARG1 ARG2 ARHGAP11B ARHGAP24 ARHGAP26 ARHGAP31 ARHGAP35 ARHGAP4 ARHGDIA ARHGEF10 ARHGEF12 ARHGEF15 ARHGEF18 ARHGEF2 ARHGEF28 ARHGEF4 ARHGEF6 ARHGEF9 ARID1A ARID1B ARID2 ARID3A ARID4A ARL13B ARL14EP ARL2 ARL2BP ARL3 ARL6 ARL6IP1 ARL6IP6 ARMC10 ARMC4 ARMC5 ARMC9 ARNT ARNT2 ARPC1B ARRDC4 ARSA ARSB ARSF ARSG ARSH ARSI ARSL ARSL (ARSE) ARV1 ARVCF ARX ASAH1 ASB1 ASB10 (GLC1F) ASCC1 ASCC3 ASCL1 ASH1L ASIC5 ASL ASMT ASNS ASPA ASPH ASPM ASPRV1 ASRGL1 ASS1 ASTN1 ASTN2 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATAD3B ATCAY ATF4 ATF5 ATF6 ATG2B ATG5 ATIC ATL1 ATL3 ATM ATN1 ATOH7 ATP10A ATP10D ATP11C ATP13A2 ATP13A4 ATP1A1 ATP1A2 ATP1A3 ATP1B4 ATP2A1 ATP2A2 ATP2B2 ATP2B3 ATP2B4 ATP2C1 ATP2C2 ATP4A ATP5A1 ATP5B ATP5C1 ATP5D ATP5E ATP5F1 ATP5F1A ATP5F1D ATP5F1E ATP5G1 ATP5G2 ATP5G3 ATP5H ATP5I ATP5J ATP5J2 ATP5L ATP5O ATP5S ATP5SL ATP6 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP6V0C ATP6V0D2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8 ATP8A2 ATP8B1 ATPAF1 ATPAF2 ATPAF2 (ATP12) ATPIF1 ATR ATRIP ATRN ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 AUH AURKAIP1 AURKC AUTS2 AVP AVPR2 AXIN1 AXIN2 AXL B3GALNT2 B3GALT6 B3GALTL B3GALTN2 B3GAT3 B3GLCT B3GNT2 B3GNT8 B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAAT BACH2 BAD BAG3 BAK1 BANF1 BAP1 BARD1 BAX BAZ1A BAZ1B BAZ2B BBC3 BBIP1 BBOX1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAT1 BCAT2 BCHE BCKDHA BCKDHB BCKDK BCL10 BCL11A BCL11B BCL2L1 BCL2L13 BCL2L2 BCL6 BCL9L BCMO1 BCO1 BCOR BCORL1 BCR BCS1L BDH1 BDNF BDP1 BEAN1 BEND2 BEST1 BFSP1 BFSP2 BGN BHLHA9 BHMT BICC1 BICD2 BID BIN1 BIRC5 BIRC6 BLANK BLK BLM BLNK BLOC1S1 BLOC1S3 BLOC1S6 BLVRA BMP1 BMP15 BMP2 BMP3 BMP4 BMP7 BMPER BMPR1A BMPR1B BMPR2 BNC2 BNIP3 BNIP3L BOD1 BOLA1 BOLA3 BPHL BPTF BRAF BRAT1 BRCA1 BRCA2 BRCC3 BRD1 BRD2 BRD4 BRDT BRF1 BRIP1 BRK1 BRPF1 BRSK2 BRWD1 BRWD3 BSCL2 BSN BSND BTAF1 BTD BTG2 BTK BTRC BUB1 BUB1B BUB3 BVES C10ORF10 C10ORF11 C10orf2 C11ORF70 C11ORF73 C11ORF95 C12ORF10 C12ORF4 C12ORF57 C12ORF65 C14ORF159 C14ORF2 C15ORF40 C15ORF41 C15ORF48 C15ORF61 C17ORF89 C19orf12 C19ORF52 C19ORF66 C19ORF70 C1GALT1C1 C1ORF186 C1QA C1QB C1QBP C1QC C1QTNF5 C1S C20ORF24 C20ORF7 C21ORF2 C21ORF33 C21ORF59 C21ORF59 [CFAP298] C2CD3 C2ORF47 C2ORF69 C2ORF71 C3 C3ORF33 C4BPA C4BPB C4ORF26 C5orf42 C6ORF136 C6ORF203 C6ORF25 C6ORF57 C7ORF55 C8B C8ORF37 C8ORF38 C8ORF82 C9ORF72 CA12 CA2 CA4 CA5A CA5B CA8 CABIN1 CABP2 CABP4 CACHD1 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB2 CACNB4 CACNG2 CAD CADM1 CADPS2 CALCR CALM1 CALM2 CALM3 CALR CALR3 CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CAMKMT CAMSAP3 CAMTA1 CAMTA2 CANT1 CAPN1 CAPN10 CAPN12 CAPN15 CAPN3 CAPN5 CAPN6 CAPZB CARD11 CARD14 CARD15 CARD9 CARKD CARMIL2 CARS1 CARS2 CARTPT CASC5 CASK CASP10 CASP14 CASP2 CASP3 CASP8 CASP9 CASQ1 CASQ2 CASR CAST CASZ1 CAT CATSPER1 CATSPER2 CAV1 CAV3 CAVIN1 CAVIN4 CBFA2T3 CBFB CBL CBLN2 CBR3 CBR4 CBS CBX2 CBX8 CC2D1A CC2D2A CCAR2 CCBE1 CCBL2 CCDC103 CCDC109B CCDC114 CCDC115 CCDC127 CCDC134 CCDC141 CCDC151 CCDC174 CCDC18 CCDC22 CCDC28B CCDC39 CCDC40 CCDC47 CCDC50 CCDC51 CCDC58 CCDC65 CCDC78 CCDC8 CCDC82 CCDC88A CCDC88C CCDC90B CCM2 CCNA1 CCNB2 CCND1 CCND2 CCNE1 CCNF CCNK CCNO CCNQ CCR1 CCR9 CCS CCT2 CCT5 CCT7 CD151 CD164 CD177 CD19 CD247 CD27 CD274 CD276 CD2AP CD320 CD33 CD36 CD3D CD3E CD3G CD3Z CD40 CD40LG CD46 CD55 CD59 CD70 CD79A CD79B CD81 CD86 CD96 CDAN1 CDC14A CDC25C CDC42 CDC42BPB CDC45 CDC5L CDC6 CDC73 CDC73 (HRPT2) CDCA7 CDH1 CDH10 CDH11 CDH13 CDH15 CDH2 CDH23 CDH3 CDH4 CDH7 CDH8 CDHR1 CDK1 CDK10 CDK11A CDK13 CDK19 CDK2 CDK4 CDK5 CDK5R1 CDK5RAP2 CDK6 CDK8 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDRT15 CDSN CDT1 CEACAM16 CEBPA CEBPE CECR1 CECR5 CEL CELF4 CELSR1 CELSR2 CELSR3 CEMIP CENPE CENPF CENPJ CENPT CEP104 CEP120 CEP135 CEP152 CEP164 CEP19 CEP250 CEP290 CEP41 CEP55 CEP57 CEP63 CEP78 CEP83 CEP85L CEP89 CEP97 CERKL CERS1 CERS3 CERT1 CETP CFAP298 CFAP410 CFAP43 CFAP44 CFAP45 CFAP53 CFAP57 CFAP69 CFB CFC1 CFH CFHR1 CFHR2 CFHR3 CFHR4 CFHR5 CFI CFL2 CFP CFTR CHAD CHAF1B CHAMP1 CHAT CHCHD1 CHCHD10 CHCHD2 CHCHD3 CHCHD4 CHCHD5 CHCHD6 CHCHD7 CHD1 CHD1L CHD2 CHD3 CHD4 CHD6 CHD7 CHD8 CHDH CHEK1 CHEK2 CHI3L1 CHKB CHL1 CHM CHMP1A CHMP2B CHMP4B CHN1 CHPT1 CHRDL1 CHRM2 CHRM3 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST14 CHST3 CHST6 CHST8 CHSY1 CHUK CIAO1 CIB1 CIB2 CIC CIDEC CIITA CILK1 CISD1 CISD2 CISD3 CIT CITED2 CIZ1 CKAP2L CKAP4 CKAP5 CKB CKM CKMT2 CLASP2 CLCA2 CLCF1 CLCN1 CLCN2 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB CLDN1 CLDN10 CLDN14 CLDN16 CLDN19 CLDN3 CLEC16A CLEC7A CLIC2 CLIC4 CLIC5 CLIP1 CLIP2 CLK2 CLMP CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLPP CLPTM1 CLPTM1L CLPX CLRN1 CLTC CLTCL1 CLUAP1 CLYBL CMC1 CMC2 CMC4 CMIP CMPK2 CNBP CNGA1 CNGA3 CNGB1 CNGB3 CNKSR1 CNKSR2 CNNM2 CNNM4 CNOT1 CNOT2 CNOT3 CNPY3 CNTN1 CNTN2 CNTN3 CNTN4 CNTN6 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP5 COA1 COA3 COA4 COA5 COA5 (C2ORF64) COA6 COA7 COA8 COASY COCH COG1 COG2 COG4 COG5 COG6 COG7 COG8 COH1 (VPS13B) COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL25A1 COL27A1 COL28A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A3BP COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL6A6 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLGALT1 COLQ COMP COMT COMTD1 COPA COPB2 COQ10A COQ10B COQ2 COQ3 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 CORO1A COX1 COX10 COX11 COX14 COX14 (C12ORF62) COX15 COX16 COX17 COX18 COX19 COX2 COX20 COX20 (FAM36A) COX3 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7B2 COX7C COX8A COX8C CP CPA1 CPA6 CPAMD8 CPE CPLANE1 CPLX1 CPNE7 CPOX CPQ CPS1 CPSF4 CPT1A CPT1B CPT1C CPT2 CPZ CR2 CRADD CRAT CRB1 CRB2 CRBN CREB3L1 CREBBP CRELD1 CRH CRHBP CRHR1 CRIPT CRKL CRLF1 CRLS1 CROT CRPPA CRTAP CRX CRY1 CRY2 CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGA CRYGB CRYGC CRYGD CRYGS CRYM CRYZ CS CSDE1 CSF1R CSF2RA CSF2RB CSF3R CSGALNACT1 CSMD1 CSNK1G1 CSNK2A1 CSNK2A2 CSNK2B CSPP1 CSRP3 CSTA CSTB CTBP1 CTC1 CTCF CTDP1 CTF1 CTH CTHRC1 CTLA4 CTNNA1 CTNNA2 CTNNA3 CTNNB1 CTNND1 CTNND2 CTNS CTPS2 CTR9 CTRC CTSA CTSB CTSC CTSD CTSF CTSH CTSK CTTNBP2 CTU2 CUBN CUL2 CUL3 CUL4B CUL5 CUL7 CUX1 CUX2 CWC27 CWF19L1 CXCL12 CXCL8 CXCR2 CXCR4 CXORF56 CYB561 CYB5A CYB5B CYB5R1 CYB5R2 CYB5R3 CYBA CYBB CYC1 CYCS CYFIP1 CYFIP2 CYLD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP24A1 CYP26B1 CYP26C1 CYP27A1 CYP27B1 CYP2C9 CYP2R1 CYP2U1 CYP4F22 CYP4V2 CYP51A1 CYP7A1 CYP7B1 CYR61 CYTB D2HGDH DAB1 DACT1 DAD1 DAG1 DAO DAOA DAP3 DAPK1 DARS DARS1 DARS2 DBH DBI DBR1 DBT DBX2 DCAF17 DCAF8 DCAKD DCC DCDC1 DCDC2 DCHS1 DCLRE1B DCLRE1C DCLRE1C (ARTEMIS) DCN DCPS DCTN1 DCTN4 DCX DDAH1 DDB1 DDB2 DDC DDHD1 DDHD2 DDOST DDR2 DDRGK1 DDX10 DDX11 DDX20 DDX23 DDX24 DDX25 DDX28 DDX3X DDX41 DDX53 DDX58 DDX59 DDX6 DEAF1 DECR1 DEF6 DEGS1 DENND5A DENR DEPDC5 DES DFNA5 DFNB31 DFNB31 (WHRN) DFNB59 DGAT1 DGCR14 DGCR2 DGCR6 DGCR8 DGKD DGKE DGKK DGKQ DGKZ DGUOK DHCR24 DHCR7 DHDDS DHFR DHH DHODH DHPS DHRS1 DHRS4 DHRS7B DHRSX DHTKD1 DHX16 DHX30 DHX32 DHX35 DHX37 DHX38 DIABLO DIAPH1 DIAPH3 DICER1 DIP2B DIP2C DIS3 DIS3L2 DISC1 DISP1 DKC1 DKK1 DLAT DLC1 DLD DLG1 DLG2 DLG3 DLG4 DLG5 DLGAP2 DLGAP4 DLL1 DLL3 DLL4 DLST DLX3 DLX5 DLX6 DMBX1 DMD DMGDH DMP1 DMPK DMRT1 DMXL1 DMXL2 DNA2 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF5 [HEATR2] DNAH1 DNAH10 DNAH11 DNAH14 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJA3 DNAJB11 DNAJB13 DNAJB2 DNAJB6 DNAJC11 DNAJC12 DNAJC13 DNAJC15 DNAJC17 DNAJC19 DNAJC21 DNAJC28 DNAJC3 DNAJC30 DNAJC4 DNAJC5 DNAJC6 DNAL1 DNAL4 DNASE1 DNASE1L3 DNASE2 DNM1 DNM1L DNM2 DNMBP DNMT1 DNMT3A DNMT3B DOCK2 DOCK3 DOCK6 DOCK7 DOCK8 DOK7 DOLK DONSON DOPEY2 DOT1L DPAGT1 DPCD DPF2 DPH1 DPM1 DPM2 DPM3 DPP6 DPY19L2 DPYD DPYS DPYSL5 DRAM2 DRC1 DRD2 DRD3 DRD5 DROSHA DRP2 DSC2 DSC3 DSCAM DSCAML1 DSE DSG1 DSG2 DSG3 DSG4 DSP DSPP DST DSTYK DTHD1 DTNA DTNB DTNBP1 DTYMK DUOX1 DUOX2 DUOXA2 DUS2 DUSP10 DUSP22 DUSP26 DUSP4 DUSP6 DUT DVL1 DVL3 DYM DYNC1H1 DYNC1I1 DYNC1I2 DYNC2H1 DYNC2LI1 DYRK1A DYRK1B DYRK2 DYSF DYX1C1 DYX1C1 [DNAAF4] DZIP1L E2F3 EARS2 EBF3 EBP ECE1 ECEL1 ECH1 ECHDC1 ECHDC2 ECHDC3 ECHS1 ECI1 ECI2 ECM1 ECSIT EDA EDA1 EDA2R EDAR EDARADD EDC3 EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EEF1B2 EEF2 EEFSEC EFCAB5 EFEMP1 EFEMP2 EFHB EFHC1 EFHC2 EFHD1 EFL1 EFNB1 EFR3A EFTUD1 EFTUD2 EGF EGFR EGLN1 EGLN2 EGR2 EHD3 EHHADH EHMT1 EIF2AK1 EIF2AK2 EIF2AK3 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EIF3H EIF4A3 EIF4E EIF4ENIF1 EIF4G1 EIF5AL1 ELAC2 ELANE ELANE (ELA2) ELF2 ELFN1 ELK1 ELMO2 ELMOD2 ELMOD3 ELN ELOF1 ELOVL1 ELOVL4 ELOVL5 ELP1 ELP1(IKBKAP) ELP2 ELP4 EMC1 EMC2 EMD EME2 EMG1 EML1 EMP2 EMX2 ENAH ENAM ENDOG ENG ENO3 ENPP1 ENTPD1 EOGT EOMES EP300 EP400 EPAS1 EPB41 EPB41L1 EPB41L4A EPB42 EPC2 EPCAM EPG5 EPHA2 EPHA3 EPHA4 EPHA5 EPHA7 EPHB2 EPHB4 EPHX1 EPHX2 EPM2A EPO EPOR EPRS EPRS1 EPS8 EPT1 ERAL1 ERAP1 ERAP2 ERBB2 ERBB2IP ERBB3 ERBB4 ERBIN ERC1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ERF ERLIN1 ERLIN2 ERMARD ESCO2 ESPN ESR1 ESR2 ESRRB ESRRG ESS2 ETFA ETFB ETFDH ETHE1 ETV4 ETV5 ETV6 EVC EVC2 EWSR1 EXO1 EXO5 EXOC4 EXOC6B EXOC7 EXOC8 EXOG EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXPH5 EXT1 EXT2 EXTL3 EYA1 EYA4 EYS EZH1 EZH2 EZR F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FA2H FAAH FAAH2 FABP1 FABP2 FABP3 FABP7 FADD FAH FAHD1 FAHD2A FAM111A FAM111B FAM120A FAM126A FAM134B FAM136A FAM149B1 FAM151A FAM161A FAM162A FAM175A FAM177A1 FAM179B FAM183A FAM185A FAM189A2 FAM195A FAM20A FAM20C FAM210A FAM210B FAM213A FAM222A FAM3C FAM46A FAM50A FAM58A FAM65B FAM83G FAM83H FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAS FAS (TNFRSF6) FASLG FASN FASTK FASTKD1 FASTKD2 FASTKD3 FASTKD5 FAT1 FAT2 FAT3 FAT4 FBLN1 FBLN5 FBN1 FBN2 FBN3 FBP1 FBXL3 FBXL4 FBXO11 FBXO18 FBXO24 FBXO28 FBXO31 FBXO38 FBXO7 FBXW11 FBXW4 FBXW7 FCGR2A FCGR2B FCHO1 FCN3 FCSK FDFT1 FDPS FDX1 FDX1L FDX2 FDXR FECH FER FERMT1 FERMT3 FEZF1 FEZF2 FGA FGB FGD1 FGD4 FGF10 FGF12 FGF13 FGF14 FGF16 FGF17 FGF20 FGF23 FGF3 FGF5 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FGG FH FHIT FHL1 FHL2 FHOD3 FIBP FIG4 FIGLA FIS1 FITM2 FKBP10 FKBP14 FKBP8 FKBPL FKRP FKTN FLAD1 FLCN FLG FLG2 FLI1 FLII FLNA FLNB FLNC FLRT1 FLRT3 FLT3 FLT4 FLVCR1 FLVCR2 FMN1 FMN2 FMO3 FMR1 FN1 FOCAD FOLR1 FOS FOXA2 FOXA3 FOXC1 FOXC2 FOXD1 FOXD3 FOXE1 FOXE3 FOXF1 FOXF2 FOXG1 FOXH1 FOXI1 FOXI3 FOXL2 FOXN1 FOXO1 FOXO3 FOXO4 FOXP1 FOXP2 FOXP3 FOXRED1 FPGS FRA16E FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMD7 FRMPD4 FRRS1L FRY FSCN2 FSHB FSHR FT140 FTCD FTH1 FTKN FTL FTMT FTO FTSJ1 FTSJ2 FUCA1 FUK FUNDC1 FUNDC2 FUS FUT8 FUZ FXN FXYD2 FYB FYB1 FYCO1 FZD10 FZD2 FZD4 FZD5 FZD9 G6PC G6PC2 G6PC3 G6PD GAA GAB2 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRA6 GABRB1 GABRB2 GABRB3 GABRD GABRE GABRG2 GABRG3 GABRQ GABRR1 GABRR3 GAD1 GAD2 GADD45GIP1 GAL GAL3ST3 GALC GALE GALK1 GALM GALNS GALNT11 GALNT12 GALNT14 GALNT2 GALNT3 GALNT9 GALNTL5 GALT GAMT GAN GANAB GAP43 GAPDH GARS GARS1 GAS1 GAS7 GAS8 GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD1 GATAD2B GATB GATC GATM GBA GBA* GBA2 GBAS GBE1 GCAT GCDH GCH1 GCK GCKR GCLC GCM2 GCNT2 GCNT3 GCSH GDAP1 GDAP2 GDF1 GDF2 GDF3 GDF5 GDF6 GDF9 GDI1 GDNF GEMIN4 GEMIN5 GEN1 GFAP GFAT1 GFER GFI1 GFI1B GFM1 GFM1 (EFG1) GFM2 GFPT1 GGCX GGT1 GH1 GHITM GHR GHRHR GHRL GHSR GIF GIGYF2 GIMAP5 GINS1 GIPC3 GIT1 GJA1 GJA3 GJA5 GJA8 GJB1 GJB2 GJB2 (Cx26) GJB2(CX26) GJB3 GJB3 (Cx31) GJB3(CX31) GJB4 GJB4 (Cx30.3) GJB6 GJB6 (Cx30) GJB6(CX30) GJC1 GJC2 GJC3 GJE1 GK GLA GLB1 GLDC GLDN GLE1 GLG1 GLI1 GLI2 GLI3 GLIS2 GLIS3 GLMN GLOD4 GLRA1 GLRA2 GLRA4 GLRB GLRX2 GLRX5 GLS GLS2 GLTSCR1 GLUD1 GLUL GLYAT GLYCTK GM2A GMNN GMPPA GMPPB GMPS GNA11 GNAI1 GNAI3 GNAL GNAO1 GNAQ GNAS GNAT1 GNAT2 GNB1 GNB1L GNB2 GNB3 GNB4 GNB5 GNE GNG5 GNMT GNPAT GNPTAB GNPTG GNRH1 GNRHR GNS GOLGA2 GOLPH3 GON4L GORAB GOSR2 GOT2 GP1BA GP1BB GP6 GP9 GPAA1 GPAM GPBP1 GPC3 GPC4 GPC6 GPD1 GPD1L GPD2 GPHN GPI GPIHBP1 GPKOW GPM6A GPR101 GPR112 GPR12 GPR125 GPR143 GPR161 GPR179 GPR34 GPR35 GPR37 GPR56 GPR64 GPR68 GPR85 GPR88 GPR98 GPRASP2 GPSM2 GPT2 GPX1 GPX4 GRB10 GREM1 GREM2 GRHL2 GRHL3 GRHPR GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIK3 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRK1 GRM1 GRM5 GRM6 GRM7 GRM8 GRN GRPEL1 GRPEL2 GRPR GRSF1 GRXCR1 GRXCR2 GSC GSK3B GSKIP GSN GSPT2 GSR GSS GSTK1 GSTO1 GSTP1 GSTZ1 GSX2 GTDC2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTPBP10 GTPBP2 GTPBP3 GTPBP6 GUCA1A GUCA1B GUCY1A1 GUCY1A3 GUCY2C GUCY2D GUF1 GUK1 GUSB GYG1 GYG2 GYPC GYS1 GYS2 H1-4 H3F3A H3F3B H6PD HAAO HABP2 HACD1 HACE1 HADH HADHA HADHB HAGH HAL HAMP HAND1 HAND2 HAO2 HAP1 HARS HARS2 HAUS3 HAVCR2 HAX1 HBA1 HBA2 HBB HBD HBS1L HCCS HCFC1 HCN1 HCN2 HCN4 HCRT HDAC1 HDAC4 HDAC6 HDAC8 HDHD3 HDLBP HDX HEATR2 HEBP1 HECW2 HELLS HELZ HELZ2 HEMK1 HEPACAM HEPHL1 HERC1 HERC2 HES7 HESX1 HEXA HEXB HEY1 HFE HFE2 HFM1 HGD HGF HGSNAT HHAT HIBADH HIBCH HIC1 HIF1A HIGD1A HIGD2A HINT1 HINT2 HINT3 HIP1 HIRA HIST1H1E HIST1H4C HIST3H3 HIVEP2 HK1 HK2 HLA-B HLA-DPB1 HLA-DQB1 HLA-DRB1 HLCS HLRCC HLTF HMBS HMCN1 HMGA2 HMGB1 HMGB3 HMGCL HMGCS2 HMHA1 HMOX1 HMX1 HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPD HNRNPDL HNRNPH1 HNRNPH2 HNRNPK HNRNPL HNRNPR HNRNPU HOGA1 HOMER2 HOXA1 HOXA10 HOXA11 HOXA13 HOXA2 HOXA4 HOXB1 HOXB13 HOXB6 HOXC13 HOXD13 HPCA HPD HPDL HPGD HPRT1 HPS1 HPS3 HPS4 HPS5 HPS6 HPSE2 HR HRAS HRG HRSP12 HS6ST1 HSBP1 HSCB HSD11B1 HSD11B2 HSD17B10 HSD17B3 HSD17B4 HSD17B8 HSD3B2 HSD3B7 HSDL1 HSDL2 HSF4 HSPA1L HSPA9 HSPB1 HSPB11 HSPB3 HSPB7 HSPB8 HSPD1 HSPE1 HSPG2 HTATIP2 HTR1A HTR2A HTR3A HTRA1 HTRA2 HTT HUWE1 HYAL1 HYAL2 HYDIN HYLS1 HYMAI HYOU1 IARS IARS1 IARS2 IBA57 ICE2 ICK ICOS ICT1 IDE IDH1 IDH2 IDH3A IDH3B IDH3G IDI1 IDS IDUA IER3IP1 IFI27 IFIH1 IFITM5 IFNAR2 IFNG IFNGR1 IFNGR2 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IFT88 IGBP1 IGF1 IGF1R IGF2 IGFALS IGFBP4 IGFBP7 IGHMBP2 IGLL1 IGSF1 IGSF9 IHH IKBKAP IKBKB IKBKG IKBKG (NEMO) IKZF1 IL10 IL10RA IL10RB IL11RA IL12A IL12B IL12RB1 IL12RB2 IL17A IL17F IL17RA IL17RC IL17RD IL1RAPL1 IL1RN IL20RA IL21 IL21R IL23R IL27RA IL2RA IL2RG IL6 IL7R ILDR1 ILF2 ILK IMMP1L IMMP2L IMMT IMPA1 IMPAD1 IMPDH1 IMPDH2 IMPG1 IMPG2 INA INAVA INF2 INO80 INPP4A INPP5E INPP5K INPPL1 INS INSL3 INSR INTS1 INTS6 INTS8 INTU INVS IPMK IPO13 IPW IQCB1 IQGAP3 IQSEC1 IQSEC2 IRAK4 IREB2 IRF2BP2 IRF2BPL IRF3 IRF4 IRF6 IRF7 IRF8 IRF9 IRX1 IRX4 IRX5 ISCA1 ISCA2 ISCU ISG15 ISOC2 ISPD ITCH ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGB1 ITGB1BP2 ITGB2 ITGB3 ITGB4 ITGB6 ITK ITM2B ITPA ITPR1 ITPR3 ITSN1 ITSN2 IVD IYD JAG1 JAGN1 JAK1 JAK2 JAK3 JAKMIP1 JAM3 JARID2 JMJD1C JPH1 JPH2 JPH3 JRK JUN JUP KAL1 KANK1 KANK2 KANK4 KANSL1 KARS KARS1 KAT2B KAT6A KAT6B KAT8 KATNAL2 KATNB1 KATNIP KBTBD13 KCNA1 KCNA2 KCNA4 KCNA5 KCNAB1 KCNAB2 KCNB1 KCNB2 KCNC1 KCNC3 KCNC4 KCND2 KCND3 KCNE1 KCNE1L(KCNE5) KCNE2 KCNE3 KCNE5 KCNG1 KCNH1 KCNH2 KCNH5 KCNH7 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ16 KCNJ18 KCNJ2 KCNJ3 KCNJ5 KCNJ6 KCNJ8 KCNK3 KCNK4 KCNK9 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ2 KCNQ3 KCNQ4 KCNQ5 KCNT1 KCNT2 KCNV2 KCTD1 KCTD10 KCTD13 KCTD17 KCTD3 KCTD7 KDELC2 KDF1 KDM1A KDM2B KDM3A KDM3B KDM5A KDM5B KDM5C KDM6A KDM6B KDR KDSR KERA KIAA0100 KIAA0141 KIAA0196 KIAA0226 KIAA0391 KIAA0556 KIAA0586 KIAA0753 KIAA1033 KIAA1109 KIAA1161 KIAA1210 KIAA1279 KIAA1279 (KIF1BP) KIAA1549 KIAA1715 KIAA2022 (NEXMIF) KIDINS220 KIF11 KIF14 KIF17 KIF1A KIF1B KIF1BP KIF1C KIF21A KIF21B KIF22 KIF23 KIF26B KIF2A KIF4A KIF5A KIF5C KIF7 KIFBP KIRREL3 KISS1 KISS1R KIT KITLG KIZ KL KLB KLC2 KLC4 KLF1 KLF10 KLF11 KLF13 KLF4 KLF6 KLF7 KLF8 KLHL1 KLHL10 KLHL15 KLHL24 KLHL3 KLHL40 KLHL41 KLHL7 KLHL9 KLK3 KLK4 KLKB1 KLLN KLRC4 KMO KMT2A (MLL) KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KPNA7 KPTN KRAS KREMEN1 KRIT1 KRT1 KRT10 KRT12 KRT13 KRT14 KRT16 KRT17 KRT2 KRT25 KRT3 KRT4 KRT5 KRT6A KRT6B KRT6C KRT71 KRT74 KRT8 KRT81 KRT83 KRT85 KRT86 KRT9 KSR2 KY KYNU L1CAM L2HGDH LACE1 LACTB LACTB2 LAGE3 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 LAMP2 LAMTOR2 LAP3 LARGE LARGE1 LARP7 LARS LARS1 LARS2 LAS1L LAT LATS1 LATS2 LBR LBX1 LCA5 LCAT LCK LCT LDB3 LDHA LDHAL6B LDHB LDHD LDLR LDLRAP1 LEF1 LEFTY2 LEMD2 LEMD3 LEO1 LEP LEPR LEPRE1 LEPRE1(P3H1) LEPREL1 LETM1 LETM2 LETMD1 LFNG LGI1 LGI4 LGR4 LHB LHCGR LHFPL5 LHL40 LHX1 LHX2 LHX3 LHX4 LIAS LIFR LIG1 LIG3 LIG4 LIM2 LIMK1 LIMK2 LIMS2 LIN7A LIN7B LINGO1 LINGO2 LINS LINS1 LIPA LIPC LIPE LIPH LIPN LIPT1 LIPT2 LITAF LLGL1 LMAN1 LMAN2L LMBR1 LMBRD1 LMF1 LMNA LMNB1 LMNB2 LMO1 LMOD2 LMOD3 LMX1B LNPEP LNPK LONP1 LONP2 LONRF3 LOR LOX LOXHD1 LOXL1 LPAR6 LPIN1 LPIN2 LPIN3 LPL LPP LRAT LRBA LRFN2 LRIG3 LRIT3 LRMDA LRP1 LRP2 LRP4 LRP5 LRP6 LRPAP1 LRPPRC LRRC10 LRRC4 LRRC56 LRRC59 LRRC6 LRRC7 LRRC8A LRRK1 LRRK2 LRRTM4 LRSAM1 LRTOMT LSS LTBP1 LTBP2 LTBP3 LTBP4 LTC4S LUM LYPLA1 LYPLAL1 LYRM1 LYRM2 LYRM4 LYRM5 LYRM7 LYRM9 LYST LZTFL1 LZTR1 LZTS1 MAB21L1 MAB21L2 MACF1 MACROD1 MAD2L2 MADD MAF MAFA MAFB MAG MAGED2 MAGEL2 MAGI1 MAGI2 MAGT1 MAK MALL MALSU1 MALT1 MAMLD1 MAN1B1 MAN2B1 MANBA MANF MAOA MAOB MAP1B MAP2 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP3K1 MAP3K12 MAP3K14 MAP3K15 MAP3K20 MAP3K3 MAP3K4 MAP3K6 MAP3K7 MAP3K8 MAP4 MAP4K2 MAP6 MAP7D2 MAPK1 MAPK10 MAPK3 MAPK8IP3 MAPKAP1 MAPKAPK3 MAPRE2 MAPT MAR1 MAR2 MAR5 MARS MARS2 MARVELD2 MASP1 MASP2 MAST1 MASTL MAT1A MAT2A MATN3 MATN4 MATR3 MAVS MAX MBD1 MBD4 MBD5 MBD6 MBL2 MBOAT7 MBTPS2 MC1R MC2R MC3R MC4R MCAT MCCC1 MCCC2 MCEE MCF2 MCFD2 MCHR1 MCIDAS MCM2 MCM3AP MCM4 MCM9 MCOLN1 MCPH1 MCTP2 MCU MCUR1 MDH1 MDH2 MDM2 MDM4 MDN1 ME1 ME2 ME3 MECOM MECP2 MECR MED12 MED12L MED13 MED13L MED17 MED23 MED25 MED27 MEF2A MEF2C MEFV MEGF10 MEGF8 MEIOB MEIS2 MEN1 MEOX1 MERTK MESP2 MET METAP1D METTL14 METTL15 METTL17 METTL20 METTL23 METTL5 METTL8 MFAP5 MFF MFHAS1 MFN1 MFN2 MFRP MFSD2A MFSD6L MFSD8 MGAM MGARP MGAT1 MGAT2 MGAT4C MGLL MGME1 MGMT MGP MGST1 MGST3 MIB1 MICAL1 MICALCL MICOS13 MICU1 MICU2 MID1 MID2 MIEF1 MIEF2 MINOS1 MIP MIPEP MIR184 MIR96 MITF MKKS MKL2 MKRN3 MKRN3-AS1 MKS1 MKX MLC1 MLH1 MLH3 MLIP MLL MLL2 MLLT3 MLLT4 MLPH MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMADHC (C2ORF25) MME MMGT1 MMP1 MMP13 MMP14 MMP19 MMP2 MMP20 MMP21 MMP3 MMP8 MMP9 MMUT MN1 MNX1 MOCOS MOCS1 MOCS2 MOCS3 MOG MOGS MORC2 MPC1 MPC1 (BRP44L) MPC2 MPDU1 MPDZ MPI MPIG6B MPIG6B(C6ORF25) MPL MPLKIP MPP7 MPST MPV17 MPV17L MPV17L2 MPZ MPZL3 MR1 MRAP MRAP2 MRAS MRE11 MRE11A MRI1 MRM1 MRM2 MRPL1 MRPL10 MRPL11 MRPL12 MRPL13 MRPL14 MRPL15 MRPL16 MRPL17 MRPL18 MRPL19 MRPL2 MRPL20 MRPL21 MRPL22 MRPL23 MRPL24 MRPL27 MRPL28 MRPL3 MRPL30 MRPL32 MRPL33 MRPL34 MRPL35 MRPL36 MRPL37 MRPL38 MRPL39 MRPL4 MRPL40 MRPL41 MRPL42 MRPL43 MRPL44 MRPL45 MRPL46 MRPL47 MRPL48 MRPL49 MRPL50 MRPL51 MRPL52 MRPL53 MRPL54 MRPL55 MRPL57 MRPL9 MRPS10 MRPS11 MRPS12 MRPS14 MRPS15 MRPS16 MRPS17 MRPS18A MRPS18B MRPS18C MRPS2 MRPS21 MRPS22 MRPS23 MRPS24 MRPS25 MRPS26 MRPS27 MRPS28 MRPS30 MRPS31 MRPS33 MRPS34 MRPS35 MRPS36 MRPS5 MRPS6 MRPS7 MRPS9 MRRF MRS2 MS4A1 MSH2 MSH3 MSH6 MSL2 MSL3 MSMB MSMO1 MSN MSR1 MSRA MSRB2 MSRB3 MST1 MSTN MSTO1 MSX1 MSX2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-RNR2 MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY MTAP MTCH1 MTCH2 MTCP1 MTERF1 MTERF2 MTERF3 MTERF4 MTFMT MTFP1 MTFR1 MTFR1L MTG1 MTG2 MTHFD1 MTHFD1L MTHFD2 MTHFD2L MTHFR MTHFS MTIF2 MTIF3 MTM1 MTMR1 MTMR14 MTMR2 MTMR8 MTND1 MTND5 MTND6 MTO1 MTOR MTPAP MTR MTRF1 MTRF1L MTRR MTSS1 MTSS1L MTTD MTTG MTTH MTTI MTTK MTTL1 MTTL2 MTTM MTTP MTTQ MTTS1 MTTS2 MTX1 MTX2 MUC1 MUC5B MUL1 MUSK MUT MUTYH MVK MXRA5 MXRA8 MY06 MYBPC1 MYBPC3 MYC MYCBP2 MYCN MYD88 MYEF2 MYF5 MYF6 MYH1 MYH10 MYH11 MYH14 MYH2 MYH3 MYH6 MYH7 MYH7B MYH8 MYH9 MYL2 MYL3 MYL4 MYLK MYLK2 MYMK MYO15A MYO18B MYO1A MYO1C MYO1E MYO1F MYO1H MYO3A MYO5A MYO5B MYO6 MYO7A MYO7B MYO9A MYO9B MYOC MYOCD MYOF MYOM1 MYOT MYOZ2 MYPN MYRF MYSM1 MYT1 MYT1L N6AMT1 NAA10 NAA15 NABP1 NACC1 NADK2 NADSYN1 NAF1 NAGA NAGLU NAGPA NAGS NALCN NANOS1 NANS NARS1 NARS2 NAT1 NAT8L NAV1 NAV2 NAXD NAXE NBAS NBEA NBEAL2 NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCDN NCEH1 NCF1 NCF1 (Exon 2) NCF2 NCF4 NCKAP1 NCOA4 NCOR1 NCS1 NDE1 NDN NDNL2 NDP NDRG1 NDRG4 NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA3 NDUFA4 NDUFA5 NDUFA6 NDUFA7 NDUFA8 NDUFA9 NDUFAB1 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF3 (C3ORF60) NDUFAF4 NDUFAF4 (C6ORF66) NDUFAF5 NDUFAF6 NDUFAF7 NDUFAF7 (C2ORF56) NDUFAF8 NDUFB1 NDUFB10 NDUFB11 NDUFB2 NDUFB3 NDUFB4 NDUFB5 NDUFB6 NDUFB7 NDUFB8 NDUFB9 NDUFC1 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS5 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3 NEB NEBL NECAP1 NECTIN1 NECTIN3 NECTIN4 NEDD4L NEFH NEFL NEGR1 NEIL1 NEK1 NEK10 NEK2 NEK4 NEK8 NEK9 NELFA NEMF NEPRO NEU1 NEU4 NEUROD1 NEUROD2 NEUROG3 NEXMIF NEXN NF1 NF2 NFASC NFAT5 NFATC3 NFE2L2 NFIA NFIB NFIX NFKB1 NFKB2 NFKBIA NFKBIZ NFS1 NFU1 NGF NGLY1 NGRN NHEJ1 NHLRC1 NHLRC2 NHP2 NHS NID1 NIF3L1 NIN NIPA1 NIPA2 NIPAL4 NIPAL4(Ichthyin) NIPBL NIPSNAP1 NIPSNAP3A NIPSNAP3B NIT1 NIT2 NKAIN2 NKAP NKX2-1 NKX2-2 NKX2-5 NKX2-6 NKX2.5 NKX3-1 NKX3-2 NKX6-2 NLGN1 NLGN2 NLGN3 NLGN4X NLGN4Y NLN NLRC4 NLRP1 NLRP12 NLRP14 NLRP2 NLRP3 NLRP3 (CIAS1) NLRP7 NLRX1 NME1 NME3 NME4 NME6 NME7 NME8 NMNAT1 NMNAT3 NNT NOA1 NOBOX NOD2 NOD2 (CARD15) NODAL NOG NOL3 NONO NOP10 NOP56 NOS1AP NOS2 NOS3 NOTCH1 NOTCH2 NOTCH3 NOVA2 NOX1 NPAP1 NPAS3 NPAS4 NPAT NPC1 NPC2 NPEPPS NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPL NPM1 NPPA NPR2 NPRL2 NPRL3 NPY4R NR0B1 NR0B2 NR1H4 NR2E1 NR2E3 NR2F1 NR2F2 NR3C1 NR3C2 NR4A2 NR4A3 NR5A1 NR5A2 NRAP NRAS NRCAM NRD1 NRF1 NRG1 NRGN NRIP1 NRL NRROS NRTN NRXN1 NRXN2 NRXN3 NSD1 NSD2 NSDHL NSMCE3 NSMF NSMF (NELF) NSUN2 NSUN3 NSUN4 NSUN7 NT5C NT5C2 NT5C3A NT5DC2 NT5DC3 NT5M NTF4 NTHL1 NTN1 NTNG1 NTNG2 NTRK1 NTRK2 NTRK3 NUB1 NUBPL NUCB2 NUDT13 NUDT15 NUDT19 NUDT2 NUDT5 NUDT6 NUDT7 NUDT8 NUDT9 NUP107 NUP133 NUP205 NUP214 NUP62 NUP88 NUP93 NUS1 NVL NXF3 NXF5 NXNL1 NXPH3 NYX OAT OBFC1 OBSCN OBSL1 OCA2 OCIAD1 OCIAD2 OCLN OCRL ODC1 OFD1 OFD1 (CXORF5) OGDH OGDHL OGG1 OGT OLFM2 OMG ONLY) OPA1 OPA3 OPCML OPHN1 OPLAH OPN1LW OPN1SW OPRL1 OPTC OPTN OR2W3 OR5H14 ORAI1 ORC1 ORC4 ORC6 OSBPL1A OSBPL2 OSGEP OSGEPL1 OSMR OSR1 OSTM1 OTC OTOA OTOF OTOG OTOGL OTUD1 OTUD4 OTUD6B OTUD7A OTX1 OTX2 OVOL2 OXA1L OXCT1 OXCT2 OXLD1 OXNAD1 OXR1 OXSM OXTR P2RX1 P2RX2 P2RY11 P2RY12 P3H1 P3H1(LEPRE1) P3H2 P4HA2 P4HB P4HTM PABPC4L PABPC5 PABPN1 PACRG PACS1 PACS2 PACSIN2 PADI3 PAF1 PAFAH1B1 PAFAH1B3 PAH PAICS PAK1 PAK3 PAK7 PALB2 PALLD PALM PAM PAM16 PANK2 PANX1 PAPSS2 PARK2 PARK7 PARL PARN PARP1 PARP10 PARS2 PASK PAX1 PAX2 PAX3 PAX4 PAX5 PAX6 PAX8 PAX9 PAXBP1 PBRM1 PBX1 PC PCBD1 PCBD2 PCCA PCCB PCDH11X PCDH12 PCDH15 PCDH19 PCDH7 PCDHB16 PCDHB4 PCGF2 PCK1 PCK2 PCLO PCM1 PCNA PCNT PCSK1 PCSK5 PCSK9 PCYT1A PCYT2 PDC PDCD1 PDCD10 PDE10A PDE11A PDE12 PDE2A PDE3A PDE4B PDE4D PDE5A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDE8B PDF PDGFB PDGFRA PDGFRB PDHA1 PDHA2 PDHB PDHX PDIA3 PDK1 PDK2 PDK3 PDK4 PDLIM3 PDP1 PDP2 PDPR PDSS1 PDSS2 PDX1 PDX1(IPF1) PDYN PDZD2 PDZD7 PECR PEO1 PEPD PER1 PER2 PERP PET100 PET117 PEX1 PEX10 PEX11A PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX5L PEX6 PEX7 PFKFB1 PFKL PFKM PFN1 PGAM2 PGAM5 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PGM3 PGR PGRMC1 PGS1 PHACTR1 PHB2 PHC1 PHEX PHF2 PHF21A PHF3 PHF6 PHF8 PHGDH PHIP PHKA1 PHKA2 PHKB PHKG2 PHOX2A PHOX2B PHYH PI4K2A PI4KA PIAS4 PIBF1 PICALM PICK1 PIEZO1 PIEZO2 PIF1 PIFO PIGA PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGX PIGY PIGZ PIH1D3 PIK3AP1 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R5 PIKFYVE PINK1 PIP5K1C PISD PITPNM3 PITRM1 PITX1 PITX2 PITX3 PKD1 PKD1L1 PKD2 PKDCC PKHD1 PKLR PKP1 PKP2 PKP4 PLA2G5 PLA2G6 PLAA PLAGL1 PLAT PLAU PLCB1 PLCB4 PLCD1 PLCE1 PLCG1 PLCG2 PLCZ1 PLD1 PLD3 PLEC PLEC1 PLEKHG2 PLEKHG4 PLEKHG5 PLEKHM1 PLEKHM2 PLG PLGRKT PLIN1 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLPBP PLS3 PLVAP PLXNA2 PLXNA3 PLXNB3 PLXND1 PMAIP1 PML PMM2 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PMVK PNKD PNKP PNLIP PNP PNPLA1 PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POC1B POC5 PODXL POFUT1 POGLUT1 POGZ POLA1 POLD1 POLD2 POLD3 POLD4 POLDIP2 POLE POLE2 POLE3 POLE4 POLG POLG2 POLH POLL POLQ POLR1A POLR1C POLR1D POLR2A POLR2M POLR3A POLR3B POLRMT POMC POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 PON1 PON2 PON3 POP1 POR PORCN POT1 POU1F1 POU3F2 POU3F3 POU3F4 POU4F1 POU4F3 PP1B PPA2 PPAP2C PPARG PPARGC1A PPARGC1B PPCS PPIB PPIF PPM1B PPM1D PPM1K PPOX PPP1CB PPP1R12A PPP1R13B PPP1R13L PPP1R15B PPP1R21 PPP1R3A PPP1R3C PPP1R3F PPP2CA PPP2R1A PPP2R2B PPP2R2C PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP3CA PPT1 PPTC7 PPWD1 PQBP1 PRADC1 PRCD PRCP PRDM12 PRDM13 PRDM16 PRDM5 PRDM6 PRDM8 PRDM9 PRDX1 PRDX2 PRDX3 PRDX4 PRDX5 PRDX6 PRELID1 PRELID2 PREPL PREX2 PRF1 PRG4 PRICKLE1 PRICKLE2 PRICKLE3 PRIMA1 PRIMPOL PRKAA1 PRKAB1 PRKACA PRKACB PRKACG PRKAG2 PRKAG3 PRKAR1A PRKAR1B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCSH PRKD1 PRKDC PRKG1 PRKG2 PRKN PRKRA PRM1 PRM2 PRM3 PRMT1 PRMT7 PRMT9 PRNP PROC PRODH PRODH2 PROK2 PROKR2 PROM1 PROP1 PROS1 PROSC PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRRT2 PRRX1 PRSS1 PRSS12 PRSS2 PRSS35 PRSS37 PRSS56 PRTN3 PRUNE PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMB8 PSMB9 PSMC3IP PSMC5 PSMD12 PSPH PSTK PSTPIP1 PTCD1 PTCD2 PTCD3 PTCH1 PTCH2 PTCHD1 PTCHD2 PTCRA PTDSS1 PTEN PTF1A PTGES2 PTGS2 PTH PTH1R PTHLH PTK2 PTPLA PTPMT1 PTPN11 PTPN14 PTPN22 PTPN23 PTPN4 PTPRC PTPRD PTPRK PTPRO PTPRQ PTPRT PTRF PTRH1 PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PUS7 PUSL1 PVRL1 PVRL3 PWAR1 PWRN1 PXDN PXMP2 PXMP4 PYCR1 PYCR2 PYGL PYGM PYROXD1 PYY QARS QARS1 QDPR QKI QRICH1 QRSL1 QTRT1 RAB11A RAB11B RAB11FIP5 RAB12 RAB14 RAB18 RAB23 RAB24 RAB27A RAB28 RAB32 RAB33B RAB35 RAB39B RAB3GAP1 RAB3GAP2 RAB40AL RAB5B RAB7A RABL3 RAC1 RAC2 RAC3 RACGAP1 RAD17 RAD21 RAD50 RAD51 RAD51B RAD51C RAD51D RAD52 RAD54B RAD54L RAF1 RAG1 RAG2 RAI1 RALA RALBP1 RALGAPA1 RALGAPB RALGDS RANBP2 RANGRF RAP1A RAP1B RAPSN RARB RARS RARS1 RARS2 RASA1 RASA2 RASAL1 RASGEF1A RASGRP1 RASGRP2 RASSF1 RASSF5 RAX RAX2 RAX2 (QRX) RB1 RBBP6 RBBP8 RBCK1 RBFA RBFOX1 RBFOX2 RBFOX3 RBL1 RBL2 RBM10 RBM20 RBM28 RBM8A RBMX RBMXL2 RBP3 RBP4 RBPJ RCBTB1 RCN2 RD3 RDH11 RDH12 RDH13 RDH14 RDH5 RDS RDS (PRPH2) RDX RECQL RECQL2 RECQL4 REEP1 REEP2 REEP6 REL RELA RELB RELN REN REPS1 REPS2 RERE RESIDUE REST RET RETREG1 REV3L REXO2 RFC1 RFC2 RFK RFT1 RFWD2 RFWD3 RFX5 RFX6 RFXANK RFXAP RGMA RGR RGS6 RGS7 RGS9 RGS9BP RHAG RHBDF2 RHEB RHO RHOA RHOBTB2 RHOT1 RHOT2 RIC1 RIC3 RILP RIMS1 RIMS3 RIN2 RINT1 RIPK1 RIPK4 RIPOR2 RIPPLY1 RIPPLY2 RIT1 RLBP1 RLIM RMDN1 RMDN3 RMI2 RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASEL RNASET2 RNF113A RNF125 RNF128 RNF13 RNF135 RNF139 RNF168 RNF170 RNF213 RNF216 RNF43 RNLS RNMTL1 RNPC3 RNU12 RNU4ATAC ROBO1 ROBO2 ROBO3 ROCK1 ROGDI ROM1 ROMO1 ROR2 RORA RORB ROS1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPL10A RPL11 RPL15 RPL18 RPL19 RPL21 RPL26 RPL27 RPL31 RPL34 RPL35 RPL35A RPL5 RPL9 RPN2 RPS10 RPS14 RPS15 RPS15A RPS17 RPS18 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA1 RPS6KA3 RPS6KA6 RPS6KC1 RPS7 RPSA RPUSD3 RPUSD4 RRAGA RRAS RRAS2 RREB1 RRM2B RS1 RSAD1 RSK2 RSK2 (RPS6KA3) RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO4 RSPRY1 RSRC1 RTEL1 RTN2 RTN4IP1 RTN4R RTTN RUBCN RUNX1 RUNX1T1 RUNX2 RUSC2 RXFP2 RXYLT1 RYR1 RYR2 RYR3 S1PR2 SACS SAG SALL1 SALL2 SALL4 SAMD11 SAMD9 SAMD9L SAMHD1 SAMM50 SAR1B SARDH SARS SARS1 SARS2 SASH1 SASH3 SASS6 SATB1 SATB2 SATL1 SBDS SBF1 SBF2 SC5D SCAF1 SCAF4 SCAMP5 SCAPER SCARB1 SCARB2 SCARF2 SCCPDH SCG5 (GREM1) SCG5-GREM1 SCGN SCLT1 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN7A SCN8A SCN9A SCNM1 SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCP2 SCRIB SCUBE2 SCYL1 SCYL2 SDC3 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR39U1 SDR9C7 SDSL SEC14L3 SEC23A SEC23B SEC24C SEC24D SEC61A1 SEC63 SECISBP2 SELENON SELO SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA4G SEMA5A SEMA6B SEMA6D SEPN1 SEPSECS SEPT12 SEPT4 SEPT9 SERAC1 SERPINA1 SERPINA7 SERPINB4 SERPINB6 SERPINB7 SERPINB8 SERPINC1 SERPINE1 SERPINF1 SERPINF2 SERPING1 SERPING1 (C1INH) SERPINH1 SERPINI1 SESN2 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SETD9 SETDB2 SETX SF3B1 SF3B4 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SFXN1 SFXN2 SFXN3 SFXN4 SFXN5 SGCA SGCB SGCD SGCE SGCG SGPL1 SGSH SH2B1 SH2B3 SH2D1A SH3BP2 SH3BP4 SH3GL1 SH3PXD2B SH3TC2 SHANK1 SHANK2 SHANK3 SHBG SHC1 SHH SHMT1 SHMT2 SHOC2 SHOX SHOX2 SHPK SHPRH SHROOM2 SHROOM3 SHROOM4 SI SIAE SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIN3B SIPA1L1 SIPA1L3 SIRT3 SIRT4 SIRT5 SIX1 SIX2 SIX3 SIX5 SIX6 SKI SKIV2L SKP2 SLC10A1 SLC10A2 SLC10A7 SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A6 SLC12A7 SLC13A5 SLC16A1 SLC16A11 SLC16A12 SLC16A2 SLC16A3 SLC16A7 SLC17A3 SLC17A5 SLC17A8 SLC17A9 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A12 SLC22A25 SLC22A4 SLC22A5 SLC24A1 SLC24A4 SLC24A5 SLC25A1 SLC25A10 SLC25A11 SLC25A12 SLC25A13 SLC25A14 SLC25A15 SLC25A16 SLC25A17 SLC25A18 SLC25A19 SLC25A2 SLC25A20 SLC25A21 SLC25A22 SLC25A23 SLC25A24 SLC25A25 SLC25A26 SLC25A27 SLC25A28 SLC25A29 SLC25A3 SLC25A3 (PHC) SLC25A30 SLC25A31 SLC25A32 SLC25A33 SLC25A34 SLC25A35 SLC25A36 SLC25A37 SLC25A38 SLC25A39 SLC25A4 SLC25A40 SLC25A41 SLC25A42 SLC25A43 SLC25A44 SLC25A45 SLC25A46 SLC25A47 SLC25A48 SLC25A5 SLC25A51 SLC25A53 SLC25A6 SLC26A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC27A4 SLC27A5 SLC29A3 SLC29A4 SLC2A1 SLC2A10 SLC2A2 SLC2A3 SLC2A5 SLC2A9 SLC30A10 SLC30A6 SLC30A9 SLC31A1 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC35D3 SLC35F5 SLC37A4 SLC38A8 SLC39A13 SLC39A14 SLC39A4 SLC39A5 SLC39A8 SLC3A1 SLC40A1 SLC41A1 SLC41A3 SLC44A1 SLC45A1 SLC45A2 SLC46A1 SLC4A1 SLC4A10 SLC4A11 SLC4A3 SLC4A4 SLC4A5 SLC4A7 SLC52A1 SLC52A2 SLC52A3 SLC5A1 SLC5A2 SLC5A5 SLC5A6 SLC5A7 SLC5A9 SLC6A1 SLC6A13 SLC6A17 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A14 SLC7A2 SLC7A3 SLC7A5 SLC7A7 SLC7A9 SLC9A1 SLC9A3 SLC9A3R1 SLC9A6 SLC9A7 SLC9A9 SLCO1B1 SLCO1B3 SLCO1C1 SLCO2A1 SLCO5A1 SLFN14 SLIRP SLIT2 SLIT3 SLITRK1 SLITRK5 SLITRK6 SLMAP SLMO1 SLMO2 SLURP1 SLX4 SMAD1 SMAD2 SMAD3 SMAD4 SMAD6 SMAD7 SMAD9 SMARCA1 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMDT1 SMG9 SMN1 SMN2 SMO SMOC1 SMOC2 SMPD1 SMPD4 SMPX SMS SMURF1 SMYD1 SNAI2 SNAP25 SNAP29 SNAPC3 SNCA SNCAIP SND1 SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPB SNRPN SNTA1 SNTG2 SNX10 SNX14 SNX27 SNX3 SOBP SOCS1 SOCS4 SOD1 SOD2 SOD3 SOGA3 SON SORCS1 SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX17 SOX18 SOX2 SOX3 SOX4 SOX5 SOX6 SOX9 SP110 SP7 SPAG1 SPARC SPART SPAST SPATA16 SPATA19 SPATA20 SPATA5 SPATA7 SPDL1 SPECC1L SPEG SPEN SPG11 SPG20 SPG21 SPG7 SPI1 SPIDR SPINK1 SPINK5 SPINT2 SPIRE1 SPN SPOCK1 SPON1 SPOP SPP1 SPP2 SPR SPRED1 SPRX2 SPRY1 SPRY4 SPRYD4 SPTA1 SPTAN1 SPTB SPTBN2 SPTBN4 SPTBN5 SPTLC1 SPTLC2 SQRDL SQSTM1 SRA1 SRC SRCAP SRD5A2 SRD5A3 SREBF1 SREBF2 SRGAP1 SRGAP2 SRI SRP54 SRP72 SRPK2 SRPK3 SRPX2 SRRM2 SRSF11 SRY SS18L1 SSBP1 SSR4 SSTR5 SSX1 ST14 ST3GAL3 ST3GAL5 ST5 ST7 ST8SIA2 STAB2 STAC3 STAG1 STAG2 STAMBP STAP1 STAR STARD7 STARD9 STAT1 STAT2 STAT3 STAT4 STAT5A STAT5B STEEP1 STIL STIM1 STK11 STK38L STK4 STN1 STOM STOML1 STOML2 STOX1 STRA6 STRADA STRC STRN STS STT3A STT3B STUB1 STX11 STX16 STX17 STX1A STX1B STX3 STXBP1 STXBP2 STXBP5L STYXL1 SUCLA2 SUCLG1 SUCLG2 SUCO SUFU SUGCT SULF1 SULT2B1 SUMF1 SUMO1 SUN5 SUOX SUPT16H SUPT5H SUPV3L1 SURF1 SUV420H1 SUZ12 SV2A SV2B SVBP SVIL SYCE1 SYCP3 SYK SYN1 SYN2 SYNCRIP SYNE1 SYNE2 SYNE4 SYNGAP1 SYNJ1 SYNJ2BP SYNM SYNPO SYP SYT1 SYT14 SYT2 SYTL4 SZT2 T TAB2 TAC3 TACO1 TACR3 TACSTD2 TAF1 TAF13 TAF15 TAF1A TAF2 TAF4 TAF4B TAF6 TAL1 TALDO1 TAMM41 TANC2 TANGO2 TAOK1 TAOK2 TAP1 TAP2 TAPT1 TARDBP TARS TARS2 TASP1 TAT TAZ TBC1D20 TBC1D23 TBC1D24 TBC1D30 TBC1D32 TBC1D4 TBC1D7 TBC1D8B TBCD TBCE TBCK TBK1 TBL1X TBL1XR1 TBL2 TBP TBR1 TBRG4 TBX1 TBX15 TBX18 TBX19 TBX2 TBX20 TBX22 TBX3 TBX4 TBX5 TBX6 TBXA2R TBXAS1 TCAIM TCAP TCEB1 TCEB2 TCEB3 TCF12 TCF20 TCF21 TCF3 TCF4 TCF7 TCF7L1 TCF7L2 TCHH TCHP TCIRG1 TCN2 TCOF1 TCTEX1D2 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TDP2 TDRD7 TDRKH TEAD1 TECPR2 TECR TECRL TECTA TEFM TEK TEKT2 TELO2 TENM1 TENM3 TENM4 TERC TERF2 TERF2IP TERT TET2 TET3 TEX11 TEX14 TEX15 TFAM TFAP2A TFAP2B TFB1M TFB2M TFE3 TFG TFR2 TFRC TG TGDS TGFA TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGFBR3 TGIF TGIF1 TGM1 TGM2 TGM5 TGM6 TH THAP1 THAP11 THAP7 THBD THBS1 THEM4 THEM5 THG1L THNSL1 THOC2 THOC6 THPO THRA THRB TIA1 TIAM1 TIMM10 TIMM10B TIMM13 TIMM17A TIMM17B TIMM21 TIMM22 TIMM44 TIMM50 TIMM8A TIMM8B TIMM9 TIMMDC1 TIMP3 TINF2 TIRAP TITF1 TJP2 TK2 TKFC TKT TLK2 TLL1 TLN1 TLN2 TLR3 TLR4 TM4SF20 TMBIM4 TMC1 TMC2 TMC6 TMC8 TMCO1 TMED7 TMEM106B TMEM107 TMEM11 TMEM114 TMEM126A TMEM126B TMEM127 TMEM132E TMEM135 TMEM138 TMEM143 TMEM147 TMEM14C TMEM165 TMEM17 TMEM173 TMEM177 TMEM186 TMEM187 TMEM199 TMEM205 TMEM216 TMEM231 TMEM237 TMEM240 TMEM260 TMEM261 TMEM38B TMEM43 TMEM5 TMEM63A TMEM65 TMEM67 TMEM70 TMEM8C TMEM92 TMEM94 TMEM98 TMIE TMLHE TMPO TMPRSS15 TMPRSS3 TMPRSS5 TMPRSS6 TMTC3 TMX2 TMX3 TNC TNFAIP3 TNFRSF10B TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFRSF6 TNFRSF6B TNFSF10 TNFSF11 TNFSF12 TNFSF13 TNFSF13B TNFSF4 TNIK TNK2 TNKS TNN TNNC1 TNNI2 TNNI3 TNNI3K TNNT1 TNNT2 TNNT3 TNPO1 TNPO3 TNR TNRC6B TNS3 TNXB TOE1 TOMM20 TOMM22 TOMM34 TOMM40 TOMM40L TOMM5 TOMM6 TOMM7 TOMM70A TONSL TOP1MT TOP2A TOP2B TOP3A TOP3B TOPBP1 TOPORS TOR1A TOR1AIP1 TP53 TP53BP1 TP53BP2 TP53RK TP63 TP73 TP73L (TP63) TPI1 TPK1 TPM1 TPM2 TPM3 TPM4 TPMT TPO TPP1 TPP1 (CLN2) TPP2 TPRKB TPRN TPSAB1 TRAF3IP1 TRAF3IP2 TRAF6 TRAF7 TRAIP TRAK1 TRAP1 TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC2L TRAPPC3 TRAPPC4 TRAPPC6A TRAPPC6B TRAPPC9 TRDN TREM2 TREML1 TREX1 TRH TRHR TRIAP1 TRIM17 TRIM2 TRIM22 TRIM24 TRIM28 TRIM3 TRIM32 TRIM37 TRIM44 TRIM63 TRIM8 TRIO TRIOBP TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT10C TRMT11 TRMT2B TRMT5 TRMT61B TRMU TRNC TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRPA1 TRPC1 TRPC3 TRPC5 TRPC6 TRPM1 TRPM2 TRPM3 TRPM4 TRPM6 TRPM7 TRPS1 TRPV3 TRPV4 TRPV6 TRRAP TRUB2 TSC1 TSC2 TSC2* TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSGA10 TSHB TSHR TSHZ3 TSPAN TSPAN12 TSPAN7 TSPEAR TSPO TSPYL1 TSR2 TST TSTD1 TSTD3 TTBK2 TTC1 TTC19 TTC21B TTC21B. TTC25 TTC37 TTC7A TTC8 TTF1 TTI1 TTI2 TTLL5 TTN TTPA TTR TUB TUBA1A TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBG1 TUBGCP2 TUBGCP4 TUBGCP5 TUBGCP6 TUFM TULP1 TUSC3 TWIST1 TWIST2 TWNK TWSG1 TXN2 TXNDC12 TXNRD1 TXNRD2 TYK2 TYMP TYR TYROBP TYRP1 TYSND1 U2AF2 UACA UBA1 UBA2 UBA5 UBA7 UBAC2 UBAP1 UBB UBE2A UBE2T UBE3A UBE3B UBIAD1 UBN2 UBQLN2 UBQLN4 UBR1 UBR2 UBR3 UBR4 UBR5 UBR7 UBTF UCHL1 UCP1 UCP2 UCP3 UFC1 UFD1 UFD1L UFM1 UGDH UGP2 UGT1A1 UGT1A7 ULK4 UMOD UMPS UNC119 UNC13A UNC13B UNC13C UNC13D UNC45B UNC5B UNC80 UNG UPB1 UPF1 UPF3B UPK2 UPK3A UQCC1 UQCC2 UQCC3 UQCR10 UQCR11 UQCRB UQCRC1 UQCRC2 UQCRFS1 UQCRH UQCRQ UROC1 UROD UROS USB1 USH1C USH1G USH2A USMG5 USP14 USP15 USP18 USP26 USP27X USP30 USP33 USP34 USP4 USP44 USP45 USP7 USP8 USP9X USP9Y UTP14C UTRN UVSSA VAC14 VAMP1 VAMP2 VAMP7 VANGL1 VANGL2 VAPB VARS VARS1 VARS2 VAV1 VAX1 VCAN VCL VCP VCX3A VDAC1 VDAC2 VDAC3 VDR VEGFA VEGFC VHL VIM VIPAS39 VIPR2 VKORC1 VLDLR VMA21 VPS11 VPS13A VPS13B VPS13B (COH1) VPS13C VPS13D VPS16 VPS33A VPS33B VPS35 VPS37A VPS45 VPS4A VPS51 VPS53 VRK1 VSIG1 VSX1 VSX2 VSX2 (CHX10) VTA1 VWA3B VWA8 VWF WAC WARS WARS2 WAS WASF1 WASF3 WASHC4 WASHC5 WBP11 WDFY3 WDPCP WDR1 WDR11 WDR13 WDR19 WDR26 WDR34 WDR35 WDR36 WDR37 WDR4 WDR45 WDR45B WDR48 WDR5 WDR60 WDR62 WDR72 WDR73 WDR81 WDR87 WDR93 WFS1 WHCR WHRN WHRN(DFNB31) WHRN/DFNB31 WHSC1 WIF1 WIPF1 WIPI2 WISP3 WNK1 WNK4 WNT1 WNT10A WNT10B WNT3 WNT3A WNT4 WNT5A WNT7A WNT8A WNT9B WRAP53 WRN WT1 WWOX XAF1 XDH XIAP XIRP1 XIRP2 XK XKR4 XLRS1 (RS1) XPA XPC XPNPEP2 XPNPEP3 XPO1 XPO5 XPR1 XRCC1 XRCC2 XRCC3 XRCC4 XRCC5 XRCC6 XRCC6BP1 XYLT1 XYLT2 XYZ YAP1 YARS YARS2 YBEY YIF1B YME1L1 YTHDF2 YWHAE YWHAG YWHAZ YY1 YY1AP1 ZADH2 ZAK ZAN ZAP70 ZBTB11 ZBTB16 ZBTB18 ZBTB20 ZBTB24 ZBTB33 ZBTB40 ZBTB42 ZBTB47 ZC3H14 ZC4H2 ZCCHC12 ZCCHC8 ZDHHC15 ZDHHC16 ZDHHC9 ZEB1 ZEB2 ZFHX4 ZFP57 ZFPM2 ZFR ZFYVE26 ZFYVE27 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYM3 ZMYND10 ZMYND10. ZMYND11 ZMYND12 ZMYND15 ZNF107 ZNF141 ZNF142 ZNF148 ZNF277 ZNF283 ZNF292 ZNF324 ZNF335 ZNF341 ZNF365 ZNF385B ZNF407 ZNF408 ZNF41 ZNF423 ZNF462 ZNF469 ZNF512B ZNF513 ZNF519 ZNF526 ZNF589 ZNF592 ZNF638 ZNF644 ZNF668 ZNF674 ZNF680 ZNF682 ZNF687 ZNF711 ZNF750 ZNF778 ZNF804A ZNF81 ZNHIT3 ZNRF1 ZP1 ZSCAN25 ZSCAN29 ZSWIM6 ZSWIM7 PRIMARY GENES OF INTEREST Select all genes that apply PRIMARY CONDITIONS OF INTEREST (CF) Cystic Fibrosis 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 2,4-Dienoyl-CoA Reductase Deficiency (DECRD) 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency 22q11.2 deletion syndrome/DiGeorge syndrome/Velocardiofacial syndrome 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH) 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency 3-Methylglutaconic Aciduria Type I 3-Methylglutaconic Aciduria Type VII (MGCA7) 46,XY Disorder of Sex Development 46,XY Gonadal Dysgenesis (SRY-related) 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related) 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related) 5-Alpha Reductase Deficiency 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency Achalasia-Addisonianism-Alacrima Achondrogenesis Achondroplasia (ACH) Achromatopsia Acid Sphingomyelinase Acral Peeling Skin Syndrome Acro-Renal-Ocular syndrome Acrofacial Dysostosis AD nocturnal frontal lobe epilepsy (ADNFLE) Adams-Oliver syndrome Adenosine Deaminase Deficiency Adenosuccinate lyase def (MR and ASD) Adenylosuccinate Lyase Deficiency ADNP syndrome Adrenal Hypoplasia Congenita (AHC), X-linked Adult-onset autosomal dominant leukodystrophy (ADLD) Agammaglobulinemia, X-linked Aicardi-Goutieres Syndrome Al-Awadi-Raas-Rothschild syndrome Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR) Alagille syndrome Albinism and Deafness (COMMAD) Albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness (ABCD) syndrome Alexander Disease All Allgrove Syndrome Alpers syndrome (Alpers-Huttenlocher syndrome) Alpha-1 Antitrypsin Deficiency Alpha-Dystroglycanopathies Alpha-Methylacyl-CoA Racemase Deficiency Alpha-Thalassemia Intellectual Disability Syndrome Alport Syndrome Alstrom Syndrome Alzheimer Disease Ambiguous external genitalia Amish Lethal Microcephaly Amyotrophic lateral sclerosis (ALS) Anauxetic Dysplasia Andersen-Tawil Syndrome Androgen Insensitivity Syndrome (AIS) Angelman syndrome (AS) Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type) Aniridia Anophthalmia Anterior segment anomalies with or without cataract Anterior Segment Dysgenesis Anterior segment Dysgenesis 7, with Sclerocornea Warburg Micro Syndrome Antley-Bixler Syndrome (ABS) APECED Apert Syndrome APRT Deficiency AR Deafness Ar Pitt-Hopkins-like MR, AR focal epilepsy (Amish) Arginase Deficiency Argininosuccinic Aciduria Aromatase Deficiency Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Arterial Tortuosity syndrome Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis multiplex congenita Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome-1 Arts Syndrome Aspartylglucosaminuria Ataxia Ataxia with oculomotor apraxia Ataxia-telangiectasia Atrial Septal Defect Atrioventricular Canal Defect Atrioventricular Septal Defect Attenuated Familial Adenomatous Polyposis (AFAP) Atypical parkinsonism Atypical Rett Syndrome Auditory Neuropathy, Autosomal Dominant, 1 Auditory neuropathy, autosomal recessive, 1/ DFNB9 Autism spectrum disorders Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA) Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB) Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy Autoimmune Polyglandular Syndrome Autosomal Dominant Polycystic Kidney Disease Autosomal Recessive Congenital Ichthyosis Autosomal recessive mental retardation with ovarian failure Autosomal Recessive Polycystic Kidney Disease Axenfeld-Rieger Syndrome Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N) Bainbridge-Ropers syndrome Bannayan-Riley-Ruvalcaba Syndrome Baraitser-Winter Syndrome Baraitser-Winter syndrome 2/ DFNA20/ DFNA26 Bardet-Biedl Syndrome Bart-Pumphrey Syndrome/ DFN3A/ DFNB1A/ Hystrix-like Ichthyosis with deafness Barth Syndrome Bartter Syndrome Bartter Syndrome/ SNHL Basal cell nevus syndrome Beare-Stevenson Cutis Gyrata Syndrome Becker Muscular Dystrophy (BMD) Benign brain tumors Benign Familial Infantile Seizures (BFIS) Benign Familial Neonatal Seizures (BFNS) Benign Familial Neonatal-Infantile Seizures (BFNIS) Benign Recurrent Intrahepatic Cholestasis (BRIC) Benign Recurrent Intrahepatic Cholestasis-2 (BRIC2) Bent Bone Dysplasia Best Vitelliform Macular Dystrophy Bestretinopathy Bestrophinopathy, Autosomal Recessive Beta-Ketothiolase Deficiency Biopterin Metabolism Biotin-responsive Basal Ganglia Disease Biotinidase Deficiency Birt-Hogg-Dube Syndrome Bjornstad Syndrome Blackfan-Diamond Syndrome Bloom Syndrome Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Bothnia retinal dystrophy Bradykinesia Brain Cancer Branchiooculofacial Syndrome Branchiootic Syndrome Branchiootic syndrome 3/ DFNA23 Branchiootorenal (BOR) Syndrome Branchiootorenal Syndrome Branchiootorenal Syndrome 1, Anterior Segment Anomalies, with or without Cataracts Branchiootorenal syndrome 2 Breast Cancer Brittle Cornea syndrome Brody Disease Brown-Vialetto-Van Laere Syndrome Bruck syndrome Brugada Syndrome Bruton type agammaglobulinemia Bulbospinal Muscular Atrophy, X-linked Bullous Ichthyosiform Erythroderma CA II Deficiency Cabezas syndrome CADASIL Caffey disease Campomelic Dysplasia (CD) Canavan Disease Candidate Gene for Hearing Loss Cantu Syndrome Capillary Malformation-Arteriovenous Malformation syndrome (CV-AVM) CARASIL Cardio-Facio-Cutaneous Syndrome Cardiofaciocutaneous Syndrome Carney Complex Carnitine Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase IA Deficiency Carnitine Palmitoyltransferase II (CPT2) Deficiency Carpenter Syndrome Carrier/Variant-Specific Testing Carrier/Variant-Specific Testing - mtDNA Variants Carrier/Variant-Specific Testing - Nuclear Variants Cartilage-Hair Hypoplasia Cataract Cataract 1, with or without Micorcornea Cataract 15, multiple types Cataract 19, multiple types Cataract 21 Cataract 30 Cataract 36 Cataract 40 Cataract 41 Cataract 43 Cataract 45 Cataract 47, juvenile, with Microcornea Cataract 5 Cataract and Microcornea Cataract and Microphthalmia Cataract-Microcornea Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) CEDNIK Syndrome Cenani-Lenz syndrome Central Core Disease Central Hypoventilation Syndrome Centronuclear Myopathy Cerebellar Ataxia Cerebellar atrophy Cerebellar Hypoplasia Cerebellar stroke Cerebral Cavernous Malformation (CCM) Cerebral Creatine Deficiency Syndrome-1 (CCDS1) Cerebral Palsy Cerebrotendinous xanthomatosis (CTX) CFTR-Related Disorders (CFTR-RD) CFTR-Related Metabolic Syndrome (CRMS) Chanarin-Dorfman syndrome Char Syndrome Charcot Marie Tooth (CMT) Charcot-Marie-Tooth disease type 1A/ Charcot-Marie-Tooth disease type 1E/ Dejerine-Sottas disease/ Inflammatory Demyelinating Neuropathy/ Recurrent Neuropathy with Pressure Palsies/ Roussy-L Charcot-Marie-Tooth disease, axonal, type 2W/ Usher syndrome type 3B Charcot-Marie-Tooth disease, recessive intermediate, B/ DFNB89 Charcot-Marie-Tooth Disease, Type 2A2 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 CHARGE Syndrome Cherubism CHILD syndrome Chondrocalcinosis 2 Chondrodysplasia Punctata (CDPX1) Chondrodysplasia Punctata, X-linked (Brachytelephalangic) Chorea Choroideremia Chromosomal Abnormalities Chromosome Abnormalities (Must indicate suspected mosaic chromosomal abnormality) Chronic Granulomatous Disease (CGD) Chronic Infantile Neurologic Cutaneous and Articular Syndrome Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO) Chronic Kidney Disease Risk Chronic or recurrent acute pancreatitis Chronic Progressive External Ophthalmoplegia (CPEO) Chudley-McCullough syndrome Ciliopathies Citrin deficiency CK Syndrome Classic Citrullinemia Classical Ehlers-Danlos syndrome Cleft lip and/or palate with mucous cysts of lower lip Clouston Syndrome CMT with Focal Segmental Glomerulosclerosis COACH Syndrome Coarctation of the Aorta Cobalamin Metabolism and Related Disorders Cockayne syndrome Coenzyme Q10 (CoQ10) Deficiency Coffin-Lowry Syndrome (CLS) Coffin-Siris syndrome Cohen Syndrome Collodion Baby Coloboma Colorectal Cancer Combined D-2- and L-2-Hydroxyglutaric Aciduria Combined dystonia Combined Malonic and Methylmalonic Aciduria (CMAMMA) Combined oxidative phosphorylation deficiency Combined pituitary hormone deficiency Combined Saposin Deficiency Complex I Deficiency Complex II Deficiency (MT-C2D) Complex III Deficiency Complex IV(Cytochrome C Oxidase) Deficiency Complex V (ATP Synthesis) Deficiency Complicated Hereditary Spastic Paraplegias Cone-Rod Dystrophy, Autosomal Dominant Cone-Rod Dystrophy, Autosomal Recessive Cone-rod Synaptic Disorder Congenital absence of the vas deferens (CAVD) Congenital Amegakaryocytic Thrombocytopenia (CAMT) Congenital Anomalies Congenital cataracts, hearing loss, and neurodegeneration Congenital Contractural Arachnodactyly Congenital deafness with Labyrinthine Aplasia, Microtia ,and Microdontia (LAMM) Congenital Disorder of Glycosylation Congenital Heart Defect Congenital Hypotonia Congenital Ichthyosiform Erythroderma, Non-Bullous Congenital Insensitivity to Pain (CIP) Congenital Insensitivity to Pain with Anhidrosis Congenital Muscular Dystrophy (CMD) Congenital Myasthenia Syndrome Congenital Myopathies Congenital Nystagmus, X-linked Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD) Congenital Stationary Night Blindness, Autosomal Dominant Congenital Stationary Night Blindness, Autosomal Recessive Congenital Stationary Night Blindness, X-Linked CopyDx/MLPA Testing Cornelia de Lange Syndrome Cortical Brain Malformations Costello Syndrome Cousin syndrome Cowden Syndrome Craniofacial-deafness-hand Syndrome Craniofrontonasal syndrome Craniometaphyseal Dysplasia Craniosynostosis CRASH Syndrome Creatine Deficiency Syndromes Crouzon Syndrome (with or without Acanthosis Nigricans) Cutaneous Mastocytosis Cutis Laxa Cutis Laxa, Autosomal Dominant Cyclic Neutropenia Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Cytochrome P450 Oxidoreductase (POR) Deficiency Danon Disease Darier Disease DDX3X-related Disorder Deafness and Myopia Deafness, Congenital Heart Defects, and Posterior Embryotoxon Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (DOORS) Deafness-Infertility Syndrome Dementia Dent Disease Dent Disease 2 Dentatorubral-Pallidoluysian Atrophy Dentinogenesis Imperfecta and Deafness Developmental Delay Developmental Eye Disorders Dextrocardia DFNA1 DFNA15 DFNA22/ DFNB37 DFNA25 DFNA2A DFNA36/ DFNB7 DFNA3B/ DFNB1B/ Digenic Deafness DFNA40 DFNA41 DFNA44 DFNA48/ DFNB62 DFNA4B DFNA5 DFNA50 DFNA51 DFNA64 DFNA66 DFNA67 DFNA68 DFNA69 DFNA70 DFNA9 DFNB102 DFNB103 DFNB104 DFNB105 DFNB15 DFNB16 DFNB18B DFNB22 DFNB24 DFNB28 DFNB29 DFNB3 DFNB30 DFNB35 DFNB36 DFNB39 DFNB4 Nonsyndromic Hearing Loss and Deafness DFNB42 DFNB49 DFNB59 DFNB6 DFNB61 DFNB63 DFNB66 DFNB68 DFNB70 DFNB77 DFNB79 DFNB8/ DFNB10 DFNB84A DFNB84B DFNB88 DFNB93 DFNB98 DFNX1 / Charcot-Marie-Tooth disease-5/ Arts syndrome DFNX2 DFNX4 DFNX6 Diabetes and Hearing Loss Diamond-Blackfan Anemia DiGeorge syndrome Dihydrolipoamide Dehydrogenase Deficiency Dihydropteridine Reductase (DHPR) Deficiency Dilated Cardiomyopathy (DCM) Dimethylglycine Dehydrogenase Deficiency Discordant external genitalia Disorders impacting patients in the newborn to early childhood period of life Disseminated bronchiectasis Distal Arthrogryposis Distal Hereditary Motor Neuropathy Distal Renal Tubular Acidosis Dopa-Responsive Dystonia Dopa-responsive parkinsonism Double Outlet Right Ventricle DRLPA Duane-Radial Ray syndrome Duchenne Muscular Dystrophy (DMD) Dyskeratosis Congenita Dyslipidemia Dystonia Dystonia-deafness syndromes Dystrophia Myotonica Dystrophia Myotonica 2 Dystrophic Epidermolysis Bullosa (DEB) Dystrophinopathies Early-Onset Epileptic Encephalopathy and/or Infantile Spasms Ebstein Anomaly Ectodermal Dysplasia Ectrodactyly Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome Ectrodactyly/Split Hand-Split Foot Malformation Ehlers-Danlos Syndrome Ellis-van Creveld Syndrome Emery-Dreifuss Muscular Dystrophy (EDMD) Encephalopathy due to defective mitochondrial and peroxisomal fission Endocrine Tumor Endometrial Cancer Enhanced S-Cone Syndrome Epidermolysis Bullosa (EB) Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Simplex Epidermolysis Bullosa, Junctional Type Epidermolysis Bullosa, Junctional with Muscular Dystrophy Epidermolysis Bullosa, Junctional with Pyloric Atresia Epidermolytic Ichthyosis Epidermolytic Palmoplantar Keratoderma (EPPK) Epilepsy Epilepsy and Mental Retardation Limited to Females Epilepsy with Variable Learning and Behavioral Disorders Epileptic Encephalopathy Episodic Ataxia Episodic Pain Syndrome Type 3 Erythrokeratodermia Variabilis (EKV) Erythrokeratodermia variabilis et progressiva / DFNA2B/ DFNB1A/ Digenic Deafness Ethylmalonic Encephalopathy ExonArray Testing exudative vitreoretinopathy Fabry Disease Factor V Leiden-Related Thrombophilia Familial Adenomatous Polyposis (FAP) Familial Amyloid Polyneuropathy Familial Cold Autoinflammatory Syndrome Familial Cold Urticaria syndrome Familial Cutaneous Malignant Melanoma Familial Dysautonomia Familial Exudative Vitreoretinopathy Familial Hibernian Fever Familial Hypercholesterolemia Familial Hypocalciuric Hypercalcemia (FHH) Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Familial Isolated Hyperparathyroidism (FIHP) Familial Isolated Hypoparathyroidism (FIH) Familial Mediterranean Fever Familial Medullary Thyroid Cancer Familial Multiple Mole and Melanoma Syndrome Familial Progressive Hyperpigmentation with or without Hypopigmentation Familial Transthyretin Amyloidosis Fanconi-Bickel Syndrome Fatty Acid Oxidation Disorders Fazio-Londe Syndrome Feingold Syndrome Ferguson-Smith Disease Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome Fetus with ultrasound anomalies FG syndrome FGFR-Related Skeletal Dysplasias Fibrochondrogenesis Focal Dermal Hypoplasia Focal Segmental Glomerulosclerosis Focal segmental glomerulosclerosis 6 (FSGS6) Foveomacular Vitelliform Dystrophy, Adult-onset FOXG1 syndrome Fragile X Syndrome Fragile X type E Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) FRDA Free Sialic Acid Storage Disorders Friedreich Ataxia Friedreich Spinocerebellar Frontometaphyseal dysplasia Frontotemporal Dementia (FTD) Frontotemporal lobar degeneration (FTLD) Fucosidosis Fumarase Deficiency Fumarate Hydratase Deficiency Fundus Albipunctatus Fundus Flavimaculatus Galactokinase deficiency Galactosemia Gangliosidosis Gastrointestinal Stromal Tumor Gaucher Disease Gender Verification Generalized Atrophic Benign Epidermolysis Bullosa (GABEB) Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Genital ambiguity Genitopatellar syndrome Gitelman Syndrome Glaucoma, Juvenile Open Angle Glaucoma, Primary Congenital Glaucoma, Primary Open Angle Glucose Transporter Type I Deficiency Syndrome Glutaric Aciduria Type I Glutaric Aciduria Type II Glutathione Synthetase Deficiency (GSSD) Glycerol Kinase Deficiency Glycogen Storage Disease 0, Muscle (GSD0B) Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb Glycogen Storage Disease IV Glycogen Storage Disease IXc (GSD9C) Glycogen Storage Disease IXd (GDS9D) Glycogen Storage Disease Type II Glycogen Storage Disease Type IXa Glycogen Storage Disease Type IXb (GSD9B) Glycogen Storage Disease Type V (GSD V) Glycogen Storage Disease VII (GSD7) Glycogen Storage Disease X (GSD10) Glycogen Storage Disease XI (GSD11) Glycogen Storage Disease XII (GSD12) Glycogen Storage Disease XIII (GSD13) Glycogen Storage Disease XV (GSD15) GM1-Gangliosidosis GNE - Related Myopathy Goldmann-Favre Syndrome Goltz Syndrome Gorlin Syndrome GRACILE Syndrome Greenberg skeletal dysplasia Greig Cephalopolysyndactyly Syndrome GRIN2B-related Neurodevelopmental Disorder Gronblad Syndrome GTP Cyclohydrolase I Deficiency Hadju-Cheney Syndrome Hailey-Hailey disease Haim-Munk Syndrome Harlequin Ichthyosis Hartsfield syndrome Haw River syndrome Hawkinsinuria Hay-Wells Syndrome Hearing Loss Hearing Loss / SNHL Hematologic Cancer Hemiplegic migraine Hereditary Angioedema (HAE) Type I-II Hereditary Angioedema (HAE) Type III Hereditary Ataxia Hereditary Fructose Intolerance Hereditary Hemorrhagic Telangiectasia (HHT) Hereditary Inclusion Body Myopathy (HIBM) Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hereditary Motor and Sensory Neuropathy (HMSN) Hereditary Multiple Exostoses (HME) Hereditary Myopathy with Lactic Acidosis Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) Hereditary Pancreatitis Hereditary Retinoblastoma Hereditary Sensory and Autonomic Neuropathy (HSAN) Hereditary Sensory and Autonomic Neuropathy I (HSAN I) Hereditary Sensory and Autonomic Neuropathy IE (HSAN1E) Hereditary Sensory and Autonomic Neuropathy II (HSAN II) Hereditary Sensory and Autonomic Neuropathy III (HSAN III) Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) Hereditary Sensory and Autonomic Neuropathy V (HSAN V) Hereditary Sensory and Autonomic Neuropathy VIII (HSAN VIII) Hereditary Spastic Paraplegia (HSP) Hereditary Spastic Paraplegia - Inborn Errors of Metabolism Herlitz Junctional Epidermolysis Bullosa Hermansky-Pudlak Syndrome Heterotaxy HFE-Associated Hemochromatosis Hidrotic ectodermal dysplasia Hirschsprung Disease HMG-CoA Lyase Deficiency Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency Holoprosencephaly Holt-Oram syndrome Homocystinuria due to Cystathionine Beta-Synthase Deficiency HOXD13-Associated Limb Abnormalities Hoyeraal-Hreidarsson Syndrome (HHS) HSAN with Spastic Paraplegia Hunter Syndrome Hurler Syndrome Hydrocephalus, X-linked Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency Hyper-IgD Syndrome Hyper-IgE Syndrome (HIES) Hyper-IgM Syndromes Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD) Hyperammonemia Related Disorders Hyperekplexia Hyperkalemic Periodic Paralysis Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus Hyperostosis-hyperphosphatemia syndrome Hyperparathyroidism-Jaw Tumor Syndrome Hyperphenylalaninemia Hyperphosphatemic familial tumoral calcinosis Hypertrophic Cardiomyopathy (HCM) Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Hypo-/Anhidrotic Ectodermal Dysplasia Hypocalcemia, Autosomal Dominant (ADH) Hypochondroplasia (HCH) Hypogonadotropic Hypogonadism (HH) Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) Hypokalemia Hypokalemic Periodic Paralysis Hypomagnesemia Hypomyelinating Leukodystrophy Hypomyelination and Congenital Cataract (HCC) Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) Hypophosphatasia Hypophosphatemic nephrolithiasis/osteoporosis Hypophosphatemic rickets Hypophosphatemic Rickets, X-linked Hypoplastic Left Heart Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) Ichthyosis Prematurity Syndrome Ichthyosis Vulgaris Ichthyosis, Spastic quadriplegia, and Mental Retardation Ichthyosis, X-linked (Steroid Sulfatase Deficiency) Idiopathic Infantile Hypercalcemia Immunodeficiency Syndrome with Hyper-IgM Incontinentia Pigmenti (IP) Infantile and Juvenile Nuclear Cataract, Unspecified Eye Infantile Liver Failure Syndrome Infantile Parkinsonism, Autosomal Recessive Infantile Spasm Syndrome-2, X-linked Inherited Erythromelalgia (IEM) Intellectual disability Interrupted Aortic Arch Interstitial lung disease (ILD) Intrahepatic Cholestasis of Pregnancy Invasive Pneumococcal Disease IRAK4 Deficiency Iris Hypoplasia Isobutyryl-CoA Dehydrogenase Deficiency Isolated Gonadotropin-releasing Hormone Deficiency (IGD) Isovaleric Acidemia Jackson-Weiss Syndrome Jensen Syndrome Jervell and Lange-Nielsen Syndrome Jervell and Lange-Nielsen syndrome / Long QT syndrome 1/ Long QT syndrome 2 Jervell and Lange-Nielsen syndrome 2 (LNS) / Long QT syndrome 5 Jobs Syndrome Joubert Syndrome Juvenile Amyotrophic Lateral Sclerosis (JALS) / Juvenile Lou Gehrig Disease Juvenile Polyposis Syndrome (JPS) Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT) Kabuki syndrome (KS) Kallmann Syndrome KBG Syndrome Kearns-Sayre Syndrome (KSS) Kennedy Disease Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) Keratosis Follicularis Spinulosa Decalvans (KFSD) Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Keutel syndrome Kleefstra Syndrome Krabbe Disease Lacrimo-Auriculo-Dental-Digital syndrome Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome Lactic Acidemia Lactic acidosis Lafora Disease Lamellar Ichthyosis Type 1 Lamellar Ichthyosis Type 2 Laterality Defect Leber Congenital Amaurosis, Autosomal Dominant Leber Congenital Amaurosis, Autosomal Recessive Lebers Hereditary Optic Neuropathy (LHON) Left Ventricular Noncompaction (LVNC) Left Ventricular Outflow Tract Obstruction Legius Syndrome Leigh Syndrome Lesch-Nyhan Syndrome Lethal Congenital Contracture Syndrome Lethal Multiple Pterygium Syndrome Leukemia Leukocyte Adhesion Deficiency Type 1 Leukodystrophy Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leukoencephalopathy with vanishing white matter Li-Fraumeni Syndrome (LFS) Liddle Syndrome LIG4 Syndrome Limb Abnormalities Limb-Girdle Muscular Dystrophy (LGMD) Limb-Mammary Syndrome Lip Pit Syndrome Lipodystrophy Lipoyltransferase 1 Deficiency (LIPT1) Lissencephaly Loeys-Dietz syndrome (LDS) Long QT Syndrome (LQTS) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Lou Gehrig's disease Lowe Syndrome (Oculocerebrorenal syndrome of Lowe) Lower Motor Neuron Disease Lujan syndrome (LS) (Lujan-Fyns syndrome) Lung Cancer Lynch Syndrome Lysosomal Acid Lipase Deficiency Lysosomal Storage Disorders Mabry syndrome Machado-Joseph disease Macrocephaly Macrocephaly, Alopecia, Cultis Laxa, and Scoliosis (MACS) Macular Dystrophy, Autosomal Dominant Macular Dystrophy, Autosomal Recessive Macular Dystrophy, Stargardt-Like Majeed Syndrome Malonyl-CoA Decarboxylase Deficiency Mandibulofacial Dysostosis Maple Syrup Urine Disease (MSUD) Maple Syrup Urine Disease, Type III Marfan Syndrome/LDS/Related Disorders Maroteaux-Lamy Syndrome Marshall syndrome MASA Syndrome Maternally Inherited Deafness or Aminoglycoside-Induced Deafness Maternally Inherited Diabetes and Deafness (MIDD) Maternally Inherited Diabetes Mellitus (MIDM) Maturity-Onset Diabetes of the Young (MODY) McArdle Disease Meckel-Gruber Syndrome MED13L Syndrome Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency MEDNIK Syndrome Medullary Cystic Kidney Disease Melanoma Panel Melnick-Fraser Syndrome Menkes Disease Metabolic Myopathy Metachondromatosis Metachromatic Leukodystrophy Metaphyseal Dysplasia without Hypotrichosis Methionine Adenosyltransferase I/III Deficiency Methylglutaconic Aciduria Methylmalonic Acidemia Methylmalonic Acidemia and Hyperhomocysteinemia, cblX Type Methylmalonic Aciduria and Homocystinuria, cblJ Type Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type Microcephaly Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ) Microphthalmia Microphthalmia, Lenz Syndrome Mitis Junctional Epidermolysis Bullosa Mitochondrial Complex I Deficiency Mitochondrial Complex II Deficiency Mitochondrial Complex III Deficiency Mitochondrial Complex IV Deficiency Mitochondrial Complex V Deficiency Mitochondrial DNA Depletion Syndrome Mitochondrial DNA Multiple Deletions Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS) Mitochondrial Encephalopathy Mitochondrial Muscle Myopathy Mitochondrial Myopathy (MM) Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE) Mitochondrial Pyruvate Carrier Deficiency Mitochondrial Recessive Ataxia Syndrome (includes SANDO and SCAE) Mitochondrial Ribosomal Protein Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D) Mitochondrial Trifunctional Protein (MTP) Deficiency Mohr-Tranebjaerg syndrome Morquio B Disease Morquio Syndrome A Motor Neuron Disease Movement Disorder Mowat-Wilson Syndrome MtDNA-related disorders Muckle-Wells Syndrome Mucolipidosis I Mucolipidosis IV Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID Mucopolysaccharidosis IIIB Mucopolysaccharidosis IIIC Mucopolysaccharidosis type I Mucopolysaccharidosis Type II Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVB Mucopolysaccharidosis VI (MPSVI) Muenke Syndrome Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Multiple Congenital Anomalies Multiple Endocrine Neoplasia 2A Multiple Endocrine Neoplasia 2B Multiple Endocrine Neoplasia Type 1 Multiple Epiphyseal Dysplasia (MED) Multiple Mitochondrial Dysfunctions Syndrome Multiple Sulfatase Deficiency Multiple syndromes associated with pathogenic variants in the TP63 gene Muscle Defects with Respiratory Insufficiency Muscular Dystrophy-Dystroglycanopathy (LGMD) Myasthenia/Myasthenic Syndromes (Congenital) Myelodysplastic syndrome MYH9 related disease/Macrothrombocytopenia and progressive sensorineural deafness / DFNA17 Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) Myoclonus dystonia Myofibrillar Myopathy Myofibrillar Myopathy (MFM) Myopathy, Lactic Acidosis, and Sideroblastic Anemia Myotonia Atrophica Myotonia Congenita Myotonic Dystrophy Myotonic Dystrophy, Type 1 (DM1) Myotonic Dystrophy, Type 2 (DM2) N-Acetylglutamate Synthase Deficiency (NAGS) Nager Syndrome Naito-Oyanagi disease Nemaline Myopathy Neonatal Onset Multisystem Inflammatory Disease Neonatal respiratory failure Neonatal Severe Primary Hyperparathyroidism (NSHPT) Nephrocalcinosis Nephrogenic Diabetes Insipidus Nephrolithiasis Nephronophthisis Nephrotic Syndrome Nephrotic Syndrome Type 9 (NPHS9) Netherton Syndrome Neurodegeneration with Brain Iron Accumulation (NBIA) Neurofibromatosis Type 1 Neurofibromatosis Type 2 Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP) Neurohypophyseal Diabetes Insipidus Neuromyotonia Neuronal Ceroid Lipofuscinoses (NCL) Neuronal Ceroid-Lipofuscinosis 2 (CLN2) Neuropathy Neutral lipid storage disease with ichthyosis (NLSD) Neutropenia, X-linked Neutrophil Immunodeficiency Syndrome Nevoid basal cell carcinoma syndrome Newfoundland Rod-Cone Dystrophy Niemann-Pick Disease Niemann-Pick Disease, Type C Niemann-Pick Disease, Types A and B Night Blindness NISCH Syndrome Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant NOD Non syndromic X-linked ID Non-epidermolytic Palmoplantar Keratoderma (NEPPK) Non-Herlitz Junctional Epidermolysis Bullosa Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53 Non-syndromic Hearing Loss, Autosomal Dominant Non-syndromic Hearing Loss, Autosomal Recessive Non-syndromic hearing loss, X-linked Nonsyndromic autosomal recessive mental retardation Nonsyndromic Low-Frequency Sensorineural Hearing Loss Nonsyndromic Sensorineural Mitochondrial Deafness / Aminoglycoside-Induced Deafness Nonsyndromic X-Linked Mental Retardation Nonsyndromic X-Linked mental retardation/ ATRX Nonsyndromic X-Linked Mental Retardation/ Fried Syndrome Nonsyndromic X-Linked Mental Retardation/ West/ Proud/ Partington/ XLAG Nonsyndromic X-Linked Mental Retardation/ XLMR-optic atrophy Noonan Syndrome Noonan syndrome with multiple lentigines Noonan-Like Syndrome Norrie Disease NSARMR and ARMR with RP Nystagmus Occipital Horn Disease Oculo Facio Cardio Dental Syndrome Oculocutaneous Albinism Oculodentaldigital Dysplasia/ AR SNHL Oculomotor apraxia Oculopharyngeal Muscular Dystrophy (OPMD) Odonto-onycho-dermal dysplasia (OODD) Ohtahara Syndrome Omenn Syndrome Open Spine/Abdominal Wall Defects Optic Atrophy Optic atrophy with or without deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy Oral-Facial Digital Type 6 Oral-Facial-Digital syndrome Type 1 Ornithine Transcarbamylase (OTC) Deficiency Ornithine Transcarbamylase Deficiency Osler-Weber-Rendu Syndrome Osteochondrodysplasias Osteogenesis Imperfecta (OI) Osteopetrosis Osteopetrosis Type 1, Autosomal Dominant Osteoporosis-Pseudoglioma Syndrome Otofaciocervical Syndrome Ovarian Cancer Ovarian dysfunction Ovarioleukodystrophy Oxidative Phosphorylation (OXPHOS) Deficiency Pachyonychia Congenita type 1 (PC1) Pachyonychia Congenita type 2 (PC2) Pallister Hall syndrome (PHS) Palmoplantar keratoderma with deafness/ Nonsyndromic Sensorineural Mitochondrial Deafness/ Aminoglycoside-Induced Deafness Palmoplantar Keratoderma with SNHL Pancreatic Cancer Papillon-Lefevre Syndrome Paraganglioma Paramyotonia Congenita Parathyroid Carcinoma Parkes Weber syndrome Parkinson Disease Parkinsonism Paroxysmal dyskinesia Paroxysmal Extreme Pain Disorder (PEPD) Paroxysmal Kinesigenic Dyskinesia (PKD) Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA) Partial Epilepsy with Auditory Features, Autosomal Dominant Patent Ductus Arteriosus Patent Foramen Ovale Pearson Syndrome Pediatric Motor Neuron Disease Pendred Syndrome Pendred syndrome / DFNB4 Periodic paralysis Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease (PCWH) Peripheral neuropathy, hoarseness, and hearing loss, DFNA4 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Periventricular Nodular Heterotopia Permanent Neonatal Diabetes (PND) Peroxisomal Biogenesis Disorders Peroxisomal Disorders Perrault Syndrome Perrault Syndrome / D-bifunctional Protein Deficiency Perrault Syndrome 4 (PRLTS4) Peter’s Anomaly Peutz-Jeghers Syndrome Pfeiffer Syndrome Phenylalanine hydroxylase deficiency Phenylketonuria Pheochromocytoma Piebaldism Pigmentary Retinal Dystrophy Pitt Hopkins Syndrome Pneumothorax, Primary Spontaneous Polycystic Kidney Disease Polycystic kidney, autosomal dominant Polycystic kidney, unspecified Polycystic Liver Disease Polymicrogyria Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) Pompe Disease Pontocerebellar Hypoplasia (PCH) Popliteal Pterygium Syndrome Postnatal respiratory distress Potassium-aggrevated myotonia Prader-Willi syndrome (PWS) Pre-axial Acrofacial Dysostosis Premature Ovarian Failure (FMR1-Associated) Premature Ovarian Failure (POF) Prenatal Cornelia de Lange Syndrome (CdLS) Primary Aldosteronism Primary AR microcephaly Primary Ciliary Dyskinesia Primary Coenzyme Q10 Deficiency Primary Familial Brain Calcification (PFBC) Primary Hyperoxaluria Primary Hyperoxaluria Type I Primary Hyperoxaluria Type II Primary Hyperoxaluria Type III Primary/Systemic Carnitine Deficiency Prion Disease Progressive External Ophthalmoplegia Progressive Familal Intrahepatic Cholestatis 4/ Familial Hypercholanemia/ DFNA51 Progressive Familial Intrahepatic Cholestasis (PFIC) Progressive Familial Intrahepatic Cholestasis-2 (PFIC2) Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Progressive Myoclonic Epilepsy Progressive Neurodevelopmental Syndrome in Males Progressive Supranuclear Palsy (PSP) Prolidase Deficiency Propionic Acidaemia Propionic Acidemia Prostate Cancer Proteus Syndrome/Proteus-like Syndrome Prothrombin-Related Thrombophilia Proximal Myotonic Myopathy (PROMM) Pseudo-Vitamin D-Deficiency Rickets Pseudoachondroplasia (PSACH) Pseudoxanthoma Elasticum (PXE) Pseudoxanthoma Elasticum-like disorder with multiple coagulation factor deficiency PTEN associated Macrocephaly/Autism Syndrome PTEN-related Disorders PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome Pulmonary alveolar proteinosis (PAP) Pulmonary Arterial Hypertension (PAH) Pulmonary Stenosis PURA Syndrome Purine Nucleoside Phosphorylase Deficiency Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Pyridoxine Dependent Seizures Pyridoxine-Refractory Sideroblastic Anemia Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive Pyruvate Carboxylase Deficiency Pyruvate dehydrogenase complex deficiency Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency Pyruvate Dehydrogenase E1-Beta Deficiency Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Pyruvate Metabolism Raine syndrome Refsum Disease Renal Cancer Renal Hypouricemia Renal tubular acidosis with deafness Renal-Coloboma Syndrome / Papillorenal Syndrome Restrictive Dermopathy Reticular Dysgenesis Retinitis Pigmentosa, Autosomal Dominant (adRP) Retinitis Pigmentosa, Autosomal Recessive (arRP) Retinitis Pigmentosa, X-linked Retinitis Punctata Albescens Retinoschisis, Juvenile X-Linked Rett syndrome Rhizomelic chondrodysplasia punctata (RCDP) Ricker Syndrome Rickets, Hypophosphatemic, Autosomal Dominant Rickets, Hypophosphatemic, Autosomal Recessive Rieger Syndrome Riley Day Syndrome Rippling muscle disease Robert<span>&#39;</span>s syndrome Robinow Syndrome Rodriguez Syndrome Rosenberg-Chutorian Syndrome Rothmund-Thomson/RAPADILINO syndrome Rubinstein-Taybi syndrome (RSTS) Salla Disease Sandhoff Disease Sanfilippo Syndrome A Sanfilippo Syndrome A, B, C and D Sanfilippo Syndrome B Sanfilippo Syndrome C Saposin A Deficiency Saposin B Deficiency Saposin C Deficiency SATB2-associated Syndrome Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) Schopf-Schulz-Passarge Syndrome (SSPS) Schwannomatosis SCN2A-related Disorders Seckel syndrome Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES/ Enlarged Vestibular Aqueduct (digenic)/ Pendred’s syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance syndrome (SeSAME syndrome) Senior-Loken Syndrome Sensorineural Hearing Loss (SNHL) Septo-Optic Dysplasia Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) Severe Combined Immune Deficiency (SCID) Severe Combined Immune Deficiency (SCID), ADA Type Severe Combined Immune Deficiency (SCID), DCLRE1C Type Severe Combined Immune Deficiency (SCID), IL7R Type Severe Combined Immune Deficiency (SCID), JAK3 Type Severe Combined Immune Deficiency (SCID), RAG Type Severe Combined Immune Deficiency (XSCID), X-linked Severe Combined Immune Deficiency with Radiation Sensitivity Severe Congenital Neutropenia Short QT Syndrome (SQTS) Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Short-Rib Thoracic Dysplasia (SRTD) Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency Shprintzen-Goldberg syndrome Shwachman-Diamond Syndrome (SDS) Sialidosis Sideroblastic Anemia Sideroblastic Anemia with Spinocerebellar Ataxia Sideroblastic Anemia, X-linked Simpson-Golabi-Behmel Syndrome (SGBS) Single Ventricle Sinoatrial Node Dysfunction and Deafness (SANDD) Sinoatrial node dysfunction and deafness (SANDD)/ Bradycardia and congenital deafness/ SNHL Situs Inversus Sjogren Larsson Syndrome (SLS) Skeletal Dysplasia Small Fiber Neuropathy (SFN) Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome (SMS) SNHL (AR) SNHL and male infertility Sotos Syndrome Spastic Ataxia Spastic paraplegia Spastic Paraplegia 28 (SPG28) Spastic Paraplegia 4 (SPG4) Spastic Paraplegia 43 (SPG43) Spastic Paraplegia 54 (SPG54) Spastic Paraplegia 74 (SPG74) Spinal and Bulbar Muscular Atrophy (SBMA) Spinal Muscular Atrophy Spinal Muscular Atrophy with lower extremity predominance Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) Spinocerebellar Ataxia Spinocerebellar Ataxia type 1 (SCA1) Spinocerebellar Ataxia type 2 (SCA2) Spinocerebellar Ataxia type 3 (SCA3) Spinocerebellar Ataxia type 6 (SCA6) Spinocerebellar Ataxia type 7 (SCA7) Spinocerebellar Ataxia type 8 (SCA8) Spinocerebellar Degeneration Split Hand - Split Foot Malformation Spondylocostal dysostosis Spondyloepiphyseal dysplasia spectrum disorders Spondylometaepiphyseal Dysplasia, Menger Type Stargardt Disease Steatocystoma Multiplex Steinert Disease Stickler syndrome STXBP1 Encephalopathy with Epilepsy Sudden Cardiac Arrest Sudden Unexplained Death Superficial Epidermolytic Ichthyosis Supravalvular Aortic Stenosis Surfactant deficiency Surfactant Dysfunction (SD) Surfactant metabolism dysfunction Susceptibility to Cutaneous Malignant Melanoma Syndromic Micropthalmia Type 3 Syntelencephaly Tay-Sachs Disease Testicular Feminization Syndrome (TFM) Tetralogy of Fallot Thanatophoric Dysplasia (TD) Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders Thrombocytopenia, X-linked Thrombocytopenioa with Absent Radii (TAR) syndrome and non-syndromic abnormalities Thyroid Cancer Tietz Albinism-Deafness Syndrome TNF Receptor-Associated Periodic Syndrome Torsion dystonia Total Anomalous Pulmonary Venous Return Townes-Brocks Syndrome Transposition of the Great Arteries Transthyretin Amyloidosis Treacher Collins Syndrome (TCS) Tremors Triphalangeal Thumb Polydactyly Triple-A Syndrome Tuberous Sclerosis Complex (TSC) Tyrosine Hydroxylase Deficiency Tyrosinemia Type I Tyrosinemia Type II Tyrosinemia Type III Ullrich CMD/Bethlem Myopathy Ullrich Congenital Muscular Dystrophy Ulnar-mammary syndrome Uncomplicated Hereditary Spastic Paraplegias Uniparental Disomy Unna-Thost disease Unspecified Hearing Loss Unverricht-Lundborg Disease (Baltic Myoclonus) Urea Cycle Disorders Usher 1B, rarely 3 / DFNA11/ DFNB2 Usher Syndrome Usher Syndrome Type 1/ DFNB12 Usher Syndrome Type 1J/ DFNB48 Usher Syndrome Type 3A/ Retinitis Pigmentosa Usher Type 1C / DFNA18 Usher Type 1G Usher Type 2A Usher type 2C Usher Type 2D / DFNB31 Uterine Cancer Van Buchem Disease Type 2 Van der Woude Syndrome Vascular Ehlers-Danlos syndrome Vasopressin-resistant Diabetes Insipidus Vasopressin-sensitive Diabetes Insipidus Velocardiofacial syndrome Ventricular Septal Defect Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Vitamin D-dependent rickets Vitamin K-dependent Coagulation Factor Deficiency Vitreoretinochoroidopathy, Autosomal Dominant Vohwinkel syndrome Von Hippel-Lindau syndrome Vorner syndrome Waardenburg Syndrome Walker–Warburg Syndrome Warburg Micro Syndrome Weissenbach-Zweymuller syndrome Wermer syndrome West Syndrome White Sponge Nevus Wieacker-Wolff Syndrome Williams-Beuren syndrome Wilson Disease Wiskott-Aldrich syndrome Wolff-Parkinson-White Syndrome Wolfram Syndrome Wolfran Syndrome and WFS like disorder/ DFNA6/ DFNA14/ DFNA38 X-linked adrenoleukodystrophy X-linked Erythropoietic Protoporphyria X-linked Myotubular Myopathy Xanthinuria Xia-Gibbs Syndrome PRIMARY CONDITIONS OF INTEREST 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