Pannelli selezionabili presso Breda Genetics. Reperti incidentali: su richiesta.
>>> Versione della lista: 9.9.5 – aggiornata al: 10 marzo 2021 <<<
| Code | Panel |
|---|---|
| Pan4 | Sindrome di Alport, di Epstein e di Fechtner (COL4A3, COL4A4, COL4A5, MYH9) |
| Pan5 | Malattia di Alzheimer e altre demenze (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, IL1RAP, MAPT, NOTCH2NLC, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP) |
| Pan6 | Sclerosi laterale amiotrofica (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, GLT8D1, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA) |
| Pan7 | Anoftalmia/microftalmia, isolata/sindromica (ABCB6, ALDH1A3, ALX1, BCOR, BMP4, CAPN15, COX14, COA5, CHD7, COX6B1, CRYAA, CRYBA4, CRYBB2, CRYGD, DPYD, DYRK1A, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMGB3, HMX1, IKBKG, ISPD, KERA, KIF11, MAB21L2, MAF, MBTPS2, MFRP, MYRF, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, PITX3, POMT1, PORCN, PQBP1, PRR12, PRSS56, PUF60, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RIPK4, SALL2, SALL4, SHH, SIX3, SIX6, SLC36A2, SLC6A19, SLC6A20, SMAD4, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TBX1, TENM3, TFAP2A, TGFB2, VAX1, VCAN, VSX1, VSX2, WDR73, ZBTB20, ZIC2) |
| Pan8 | Aneurisma aortico familiare toracico (ACTA2, COL3A1, FBN1, FBN2, FOXE3, LOX, LTBP3, MFAP5, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, SMAD4, TGFBR1, TGFBR2, TGFB2, THSD4) |
| Pan9 | Aritmie ereditarie (AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAP2, CAV3, CTNNA3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL24, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SHOX2, SNTA1, TGFB3, TMEM43) |
| Pan10 | Cardiomiopatia aritmogenica del ventricolo destro (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43) |
| Pan11 | Artrogriposi distale e altre contratture degli arti (ADCY6, BEST3, ECEL1, ERGIC1, FBN1, FBN2, MYBPC1, NALCN, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2, VIPAS39) |
| Pan12 | Ashkenazi – patologie frequenti (GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2) |
| Pan13 | Disturbi dello spettro autistico (ADNP, ANKRD11, AFF2, ALDH5A1, ALDH7A1, AP1S2, ARID1B, ARX, ATRX, AVPR1A, BDNF, BRAF, BRSK2, CACNA1C, CASK, CDKL5, CHAMP1, CHD2 CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DLST, DMD, DOCK4, DPP10, DPP6, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GAMT, GATM, GNA14, GRIA3, GRIN2B, GRPR, HERC2, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN1, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PNPO, POGZ, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, SYNGAP1, TCF4, TRRAP, TSC1, TSC2, UBE3A, UPF3B VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6) |
| Pan14 | Sindrome di Bardet-Biedl (ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, IFT27, IFT74, IFT172, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP) |
| Pan15 | Sindrome di Bartter (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3) |
| Pan16 | Miopatia di Bethlem (COL6A1, COL6A2, COL6A3, COL12A1) |
| Pan17 | Cancro ereditario della mammella e dell’ovaio (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53) |
| Pan18 | Sindrome di Brugada (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, TRPM4, SCN1B, SCN3B, SCN5A) |
| Pan19 | |
| Pan20 | Cardiomiopatia dilatativa (ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CAP2, CSRP3, CRYAB, DES, DMD, DSG2, EYA4, FKTN, GATAD1, HAND1, HAND2, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PPP1R13L, PRDM16, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) |
| Pan21 | Cardiomiopatia ipertrofica (ACTC1, ACTN2, CALR3, CAV3, CSRP3, FLNC, GLA, JPH2, KLHL24, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) |
| Pan22 | Cataratta, isolata, classico (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, DNMBP, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TDRD7, UNC45B, VIM, WFS1) |
| Pan23 | Tachicardia ventricolare polimorfica catecolaminergica (RYR2, CASQ2, KCNJ2) |
| Pan24 | Sindrome da ipoventilazione centrale (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2, LBX1) |
| Pan25 | Atassia cerebellare (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, RNU12, SACS, SETX, SYNE1, TTPA, VLDLR) |
| Pan26 | Lipofuscinosi ceroide neuronale (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1) |
| Pan27 | Neuropatia di Charcot-Marie-Tooth (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, C1orf194, CNTNAP1, COA7, COX6A1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GBF1, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, PTRH2, RAB7A, REEP1, SACS, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SORD, SPG11, SPTLC1, SPTAN1, TRIM2, TRPV4, VCP, VWA1, WARS, YARS) |
| Pan28 | Discinesia ciliare primaria (ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS2L2, GAS8, HEATR2, HYDIN, KTU, LRRC6, MNS1, NME5, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, TXNDC3, ZMYND10) |
| Pan30 | Sindrome di Coffin-Siris (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, SOX11) |
| Pan31 | Cancro gastrico e del colon, con o senza poliposi (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, NTHL1, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM) |
| Pan32 | Distrofia dei coni/bastoncelli (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, DRAM2, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119) |
| Pan33 | Ittiosi congenita (ABCA12, ABHD5, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, FATP4, LIPN, NIPAL4, PNPLA1, SREBF1, SDR9C7, ST14, SULT2B1, TGM1) |
| Pan34 | Sindromi miasteniche congenite (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2) |
| Pan35 | Sindrome di Cornelia de Lange (ANKRD11, EP300, HDAC8, NIPBL, RAD21, SMC1A, SMC3, MAU2) |
| Pan36 | |
| Pan37 | Glomerulonefrite membranoproliferativa tipo II, malattia da depositi densi, sindrome emolitico-uremica atipica e porpora trombotica trombocitopenica (ADAMTS13, C3, CD46, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFH, CFI, DGKE, LMNA, LCAT, THBD.) |
| Pan38 | Diabete neonatale (ABCC8, EIF2B1, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1) |
| Pan39 | Anemia di Diamond-Blackfan (GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2) |
| Pan40 | Sindrome di Dravet (SCN1A, GABRG2, SCN2A, SCN9A) |
| Pan41 | Distonia (GCH1, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, VPS13A, mitochondrial DNA) |
| Pan42 | Encefalopatia epilettica infantile precoce (AARS, ACTL6B, ALG13, AP2M1, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, COQ5, CSNK1E, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FRRS1L, GABRA1, GABRB1, GABRB3, GAD1, GOT2, GNAO1, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MDH2, MYRF, NECAP1, NEUROD2, NSF, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PLCB1, PNKP, PRICKLE1, PTPN23, RNF13, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A10, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNJ1, SZT2, TBC1D24, THG1L, TRAPPC2L, TRAK1, TRIM8, TRPM3, UBA5, WWOX) |
| Pan43 | Sindrome di Ehlers-Danlos, sindrome di Marfan, aneurisma aortico familiare e arterial tortuosity syndrome (ACTA2, CBS, COL3A1, COL5A1, COL5A2, DLG4, EFEMP1, EMILIN1, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB) |
| Pan44 | Epidermolisi bullosa (COL7A1, COL17A1, EXPH5, KLHL24, ITGA6, ITGB4, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PLEC, CD151, CDSN, CHST8, CSTA, DSG1, DSG2, DSG4, DSP, DST, FERMT1, GRIP1, ITGA3 , MMP1, NID1, PKP1, TGM5) |
| Pan45 | Epilessia ereditaria (CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CSNK2B, CPA6, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2) |
| Pan46 | Encefalopatia epilettica (ACTL6B, ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, CSNK1E, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, PTPN23, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, THG1L, TREX1, TRIM8, TRPM3, UBE3A, ZEB2) |
| Pan47 | |
| Pan48 | Emicrania emiplegica familiare, CADASIL, vasculopatia retinica con leucodistrofia cerebrale, teleangectasia emorragica ereditaria, malformazioni cavernose cerebrali familiari & emiplegia alternante dell’infanzia (ATP1A2, CACNA1A, SCN1A, NOTHC3, TREX1, ENG, ACVRL1, SMAD4, KRIT1, CCM2) |
| Pan49 | Ipercolesterolemia familiare e altri difetti del metabolismo lipoproteico (APOB, LDLR, PCSK9, APOE, LRP6, ABCG5, ABCG8) |
| Pan50 | Anemia di Fanconi (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2) |
| Pan51 | |
| Pan52 | |
| Pan53 | Glomerulosclerosi segmentale focale/sindrome nefrotica (ACTN4, ANLN, ARHGDIA, CD2AP, COQ8B, CRB2, DGKE, EMP2, INF2, KANK2, LAMB2, MAGI2, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PLCE1, PTPRO, SGPL1, TBC1D8B, TRPC6, WT1) |
| Pan54 | Demenza frontotemporale (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2) |
| Pan55 | Malattie da accumulo di glicogeno (GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2) |
| Pan56 | Miopatie da accumulo di glicogeno e lipidi, con o senza rabdomiolisi, intolleranza all’esercizio e altre miopatie metaboliche (ABHD5, ACAD9, ACADM, ACADL, ACADS, ACADVL, AGL, AMACR, AMPD1, ANO5, ATP2A1, CASQ1, CAV3, COA5, COQ2, COQ8A, COQ9, COX6B1, COX10, COX14, CPT1B, CPT2, CTDP1, DMD, DYSF, ENO3, ETFA, ETFB, ETFDH, FASTDK2, FDX2, FKRP, FKTN, FLAD1, GAA, GBE1, GYG1, GYS1, HADH, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, POLG, POLG2, PRKAG2, PUS1, PYGM, RRM2B, RYR1, SCN4A, SIL1, SLC16A1, SLC22A5, SLC25A20, SUCLA2, TACO1, TAZ, TK2, TSFM, TWNK, TYMP, YARS2, mitochondrial DNA) |
| Pan57 | Difetti della glicosilazione (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, GALNT2, MAGT1, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1) |
| Pan58 | Linfoistiocitosi emofagocitica primaria e sua diagnosi differenziale (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, LYST) |
| Pan59 | Difetti della membrana del globulo rosso [incl.: sferocitosi ereditaria, ellissocitosi, piropoichilocitosi e stomatocitosi] (ABCB6, RHAG, RHCE, SLC2A1, ANK1, SPTB, SPTA1, EPB41, EPB42, ABCG5, ABCG8, SLC4A1, GYPC, HFE.) |
| Pan60 | Eterotassia viscerale, tetralogia di Fallot, associazione VATER & VACTERL(ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3) |
| Pan61 | |
| Pan62 | Difetti della modificazione degli istoni e loro diagnosi differenziale [incl. sindrome di Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser e Cornelia de Lange] (ANKRD11, ARID1A, ARID1B, EP300, HDAC8, HNRNPK, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21) |
| Pan63 | Oloprosencefalia (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2) |
| Pan64 | Iperecplessia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5) |
| Pan65 | Sindrome di Kallmann e altre forme di ipogonadismo ipogonadotropo con o senza anosmia (ANOS1, CHD7, DCC, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FMR1, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NDNF, NELF, NTN1, PROK2, PROKR2, SEMA3A, SPRY4, TAC3, TACR3, WDR11) |
| Pan66 | Amaurosi congenita di Leber (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RIMS2, RPE65, RPGRIP1, SPATA7, TULP1) |
| Pan67 | |
| Pan68 | Leucodistrofia (AARS, AARS2, ABAT, ABCD1, ACADS, ACER3, ACOX1, ACY1, ADAR, ADGRG1, ADSL, AHDC1, ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2, CLN6, CLP1, COL4A1, COL4A2, COX10, COX15, COX7B, CPLX1, CSF1R, CTBP1, CTC1, CTDP1, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DDHD2, DEAF1, DGES1, DHFR, DHH, DLL4, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EPG5, ERCC2, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FGD4, FGFRL1, FIG4, FKRP, FOLR1, FOXC1, FOXG1, FOXRED1, GAA, GALC, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, KARS, KCNJ10, KCNT1, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MOCS1, MOCS2, MPV17, MPZ, MRPS22, MTFMT, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NRXN1, NSD2, NUBPL, OCRL, PAFAH1B1, PC, PCDH12, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLEKHG2, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RARS, RBPJ, RHOA, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RPS6KC1, SAMHD1, SBF2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SH3TC2, SHANK3, SHPK, SLC16A2, SLC17A5, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SNIP1, SOX10, SPATA5, SPG11, SPG20, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, VPS11, WWOX, ZEB2, ZFYVE26, ZNF335) |
| Pan69 | Distrofia muscolare dei cingoli (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, POPDC3, SELENON, SGCA, SGCB, SGCD, SGCG, TCAP, TRAPPC11, TRIM32, TTN) |
| Pan70 | Lissencefalia (APC2, ARX, CDK5, DCX, KATNB1, NDE1, KATNB1, KIF2A, KIF5C, LAMB1, MACF1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8) |
| Pan71 | Sindrome del QT lungo (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SCN10A, SNTA1) |
| Pan72 | Malattie lisosomiali(ABCC8, ACY1, ADAMTSL2, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL11A2, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DPYD, DYM, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS, IDUA, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MOCS1, MOCS2, MYOT, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX12, PEX13, PEX16, PEX26, PEX3, PEX5, PEX6, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR, RAI1, SGSH, SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1 ) |
| Pan73 | Infertilità maschile (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1, PPP2R3C, QRICH2, SEPT12, SLC26A8, SOHLH1, SPAG17, SPATA16, SPEF2, SPINK2, STX2, SUN5, SYCE1, SYCP2, SYCP3, TAF4B, TDRD9, TEX11, TEX14, TEX15, TSGA10, TTC21A, TTC29, TTC29, USP9Y, WDR66, XRCC2, ZMYND15) |
| Pan74 | Ipertermia maligna (CACNA1S, TRPV1, RYR1) |
| Pan75 | Malattia delle urine a sciroppo d’acero (BCKDHA, BCKDHB, DBT, DLD) |
| Pan76 | Sindrome di Marfan e malattie correlate (ACTA2, COL3A1, COL5A1, COL5A2, DLG4, EFEMP1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2) |
| Pan77 | Sindrome di Joubert & Meckel-Gruber, classico (AHI1, ARL13B, ARL3, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, FAM149B1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) |
| Pan78 | Anemia megaloblastica con o senza omocistinuria – difetti del metabolismo intracellulare della cobalamina (AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4) |
| Pan79 | Ritardo mentale, X-linked (ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, NEXMIF, KDM5C, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF674, ZNF711) |
| Pan80 | Displasia metafisaria (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2) |
| Pan81 | Acidemia metilmalonica (ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1) |
| Pan82 | Deficit del complesso mitocondriale IV – deficit di citocromo C ossidasi (APOPT1, C12ORF62, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, FARS2 FASTKD2, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1, MTTS1, PET100, POLG, SCO1, SCO2, SURF1, TACO1) |
| Pan83 | MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57) |
| Pan84 | Mucopolisaccaridosi (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH) |
| Pan85 | Displasia epifiseale multipla (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2) |
| Pan86 | Miopatia miofibrillare, mamipatia di Nonaka, disferlinopatia e miopatia distale di Laing e miopatia da disproporzione congenita (BAG3, CRYAB, DES, DNAJB6, DYSF, FHL1, GNE, FLNC, KY, LDB3, MYH7, MYOT, PYROXD1, SELENON, SVIL) |
| Pan87 | Miopatia nemalinica e altre miopatie congenite (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, MYPN, NEB, RYR1, SELENON, TNNT1, TPM2, TPM3.) |
| Pan88 | Nefronoftisi (ADAMTS9, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8) |
| Pan90 | Neurofibromatosi (NF1, NF2, SPRED1) |
| Pan91 | Difetti della migrazione neuronale (ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ATP6V0A2, B3GALNT2, COL4A1, COL4A2, COL18A1, CPT2, DCX, DYNC1H1, EMX2, EOMES, FAT4, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, GMPPB, GPSM2, IER3IP1, ISPD, KATNB1, KIF1BP, KIF7, L1CAM, LAMA2, LAMB1, LAMC3, LARGE1, MACF1, MAPK8IP3, MED12, MEF2C, MPDZ, NDE1, NSDHL, OCLN, PAFAH1B1, PAX6, PHGDH, PEX7, PIK3CA, PIK3R2, POMGN, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SEPSECS, SNAP29, SRPX2, T2, TMEM5, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, VLDLR, WDR62, YWHAE) |
| Pan92 | Sindrome di Noonan, LEOPARD, Costello e CFC, classico (BRAF, CBL, HRAS, KRAS, MAPK1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SPRED1) |
| Pan93 | Atassia con aprassia oculomotoria (APTX, MAG, PIK3R5, SETX, PNKP) |
| Pan94 | Oftalmoplegia esterna progressiva (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA) |
| Pan95 | Atrofia ottica (ACO2, AUH, CISD2, DNAJC19, MFN2, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA) |
| Pan96 | Osteogenesi imperfetta (ANO5, ALPL, BMP1, CCDC134, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, YY1AP1, WNT1) |
| Pan97 | Osteopetrosi (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A) |
| Pan98 | Carcinoma del pancreas (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11) |
| Pan99 | Pancreatite (PRSS1, SPINK1, CFTR, CTRC, TRPV6) |
| Pan100 | Neurodegenerazione con accumulo cerebrale di ferro [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45) |
| Pan101 | Morbo di Parkinson (ADH1C, ATP13A2, ATP1A3, ATP6AP2, ARSD, CHCHD2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS13C, VPS35) |
| Pan102 | Sindrome della febbre periodica (ELANE, LPIN2, MEFV, MVK, NLRP3, NLRP12, PSTPIP1, TNFRSF1A) |
| Pan103 | Feocromocitoma (DLST, MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL) |
| Pan104 | Rene policistico e sua diagnosi differenziale, classico (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL) |
| Pan105 | Ipoplasia pontocerebellare, classico (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1) |
| Pan106 | |
| Pan107 | Cancro renale (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1) |
| Pan108 | Retinite pigmentosa, esteso (ABCA4, AGBL5, AHR, ARHGEF18, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, HK1, IDH3B, IMPDH1, IMPG2, IFT140, IFT172, IFT43, KIAA1549, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF408, ZNF513) |
| Pan109 | |
| Pan110 | Atassia spinocerebellare, classico (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN10, CACNA1A, CACNA1G, CCDC88C, CHDH, DNMT1, EEF2, ELOVL4, FGF14, GRID2, GRM1, IFRD1, ITPR1, KCNC3, KCND3, NPTX1, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SAMD9L, SETX, SNX14, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TRPC3, TTBK2, TTPA, TWNK, WWOX) |
| Pan112 | Tumori della pelle (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3) |
| Pan113 | Paraplegia spastica ereditaria (ACP33, ALDH18A1, AMPD2, AP5Z1, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BSCL2, CAPN1, C12orf65, C19orf12, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, GJC2, HSPD1, IBA57, KIAA0196, KIF1A, KIF1C, KIF5A, KLC2, L1CAM, MAG, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, RTN2, SELENOI, SLC16A2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, SVBP, TECPR2, TFG, UBAP1, UCHL1, VPS37A, WASHC5, ZFYVE26, ZFYVE27) |
| Pan114 | Sferocitosi ereditaria (ANK1, EPB42, SLC4A1, SPTA1, SPTB) |
| Pan115 | Malattia di Stargardt (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1) |
| Pan116 | Sindrome di Stickler (BMP4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LOXL3) |
| Pan117 | Malattie del metabolismo del surfattante (ABCA3, CSF2RA, CSF2RB, NKX2-1, OAS1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD) |
| Pan118 | Trombocitopenia (ACTN1, ADAMTS13, ANKRD26, ANO6, CD36, CYCS, DIAPH1, EPHB2, ETV6, FLI1, FLNA, FYB, GATA1, GFI1B, GP1BA, GP1BB, GP6, GP9, HOXA11, IKZF5, ITGA2B, ITGB3, MASTL, MECOM, MPL, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, RBM8A, RUNX1, SLFN14, SRC, STIM1, TBXA2R, THPO, TPM4, TRPM7, TUBB1, WAS) |
| Pan119 | Cancro della tiroide (APC, PTEN, RET) |
| Pan120 | Scelrosi tuberosa (TSC1, TSC2) |
| Pan121 | Distrofia muscolare di Ullrich (COL6A1, COL6A2, COL6A3) |
| Pan122 | Difetti del ciclo dell’urea e iperammoniemie (ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70) |
| Pan1 | Leucemia mieloide acuta (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT) |
| Pan123 | Sindrome di Usher tipo I, II, III e sua diagnosi differenziale (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, RPGR, TIMM8A, USH1C, USH1G, USH2A, WHRN) |
| Pan124 | Vitreoretinopatia e sindrome di Wagner (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN) |
| Pan125 | Sindrome di Waardenburg (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR) |
| Pan126 | Sindrome di Walker-Warburg (FKRP, FKTN, ISPD, LARGE1, POMT1, POMT2) |
| Pan127 | Sindrome di Zellweger (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26) |
| Pan128 | Infarto del miocardio, familiare (ABCG5, ABCG8, APOE, LRP6, LDLR, APOB, PCSK9, ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, LIPA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) |
| Pan129 | Discinesia/corea familliare (ADYC5, NKX2-1, PRRT2, PNKD, SLC2A1) |
| Pan130 | Sindrome di Rett e simil-Rett (MECP2, FOXG1, CDKL5, JMJD1C, MEF2C, TCF4, GABBR2, GABRD, GRIN1, WDR45, SMC1A.) |
| Pan131 | Rachistismo ipofostatemico (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3) |
| Pan132 | Sindrome di Allan-Herndon-Dudley e sua diagnosi differenziale (ABCD1, ASPA, ARSA, GALC, MECP2, PLP1, SLC16A2, SMS) |
| Pan133 | Microangiopatia cerebroretinica con calcificazioni e cisti – sindrome Coats plus – e sua diagnosi differenziale (CTC1, JAM2, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB) |
| Pan134 | Discheratosi congenita e sua diagnosi differenziale (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, TPP1, WRAP53) |
| Pan135 | Sindrome di Joubert & Meckel-Gruber, esteso (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, FAM149B1, INPP5E, KIAA0556, KIAA0586, KIF7, KIF14, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) |
| Pan136 | Ipoplasia pontocerebellare, esteso (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1) |
| Pan137 | |
| Pan138 | Fibromialgia, diagnosi differenziale genetica (APOPT1, ACADVL, AMPD1, C12ORF62, CAV3, CLCN1, CNBP, COA3, COA5, COA6, COL1A1, COL5A1, COL5A2, COX10, COX14, COX15, COX20, COX6B1, CPT2, ENO3, FARS2, FASTKD2, FMR1, GAA, LDHA, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1 MTTS1, NOD2, PET100, PFKM, PGAM2, PGM1, PMP22, POLG, PYGM, RYR1, SCO1, SCO2, SLC16A1, SPR, STIM1, SURF1, TACO1, TNFRSF1A, TNXB) |
| Pan139 | Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAPK1, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, RREB1, SHOC2, SOS1, SOS2, SPRED1) |
| Pan140 | Non compattazione del ventricolo sinistro (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1) |
| Pan141 | Retinite pigmentosa, classico (ABCA4, AIPL1, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513) |
| Pan142 | Craniosinostosi, inluse le craniosinostosi FGFR-relate e loro diagnosi differenziale e altre forme di craniosinostosi [incl. sindrome di Pfeiffer, sindrome di Apert, sindrome di Crouzon, sindrome di Beare-Stevenson, sinostosi coronale isolata FGFR2-relata, sindrome di Jackson-Weiss, sindrome di Crouzon con acanthosis nigricans, sindrome di Muenke, sindrome di Saethre-Chotzen, sindrome di Baller-Gerold, sindrome di Carpenter, sindrome craniofrontonasale, cefalopolisindattilia di Greig, sindrome di Shprintzen-Goldberg, craniosinostosi tipo Boston, sindrome di Loeys-Dietz, sindrome di Robinow-Sorauf syndrome, sindrome di Meier-Gorlin syndrome 7, displasia cranioectodermica, sindrome 3MC, sindrome progeroide di Fontaine, sindrome di Hamamy, sindrome di Curry-Jones, sindrome di Sweeney-Cox syndrome e altre] (ALX4, CDC45, COLEC11, CTNNA1, CYP26B1, EFNB1, ERF, FGF9, FGFR1, FGFR2, FGFR3, FREM1, GLI2, GLI3, GPC4, HUWE1, IFT122, IL11RA, IRX5, IFT43, KAT6A, MASP1, MBL2, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, SEC24D, SOX11, SKI, SLC25A24, SMAD6, SMO, SOX6, TCF12, TFAP2B, TGFBR1, TGFBR2, TWIST1, WDR19, ZIC1) |
| Pan143 | Morte improvvisa (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAVIN1, CAV3, CSRP3, CTNNA3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLHL24, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NPPA, NUP155, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SEMA3A, SLMAP, SNTA1, TANGO2, TECRL, TCAP, TGFB3, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL) |
| Pan144 | Displasia spondilometafisaria e sua diagnosi differenziale (ACP5, BMP2, BMPR1B, C21orf2, COL11A1, COL11A2, COL2A1, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, NEK1, NOG, PAM16, PAPSS2, PCYT1A, PITX1, ROR2, TRAPPC2, TRPV4) |
| Pan145 | Iperaldosteronismo familiare e sua diagnosi differenziale (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, CLCN2, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G) |
| Pan146 | Colestasi e difetti della sintesi degli acidi biliari (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, LSR, MYO5B, NR1H4, USP53, TJP2) |
| Pan147 | |
| Pan148 | Ipoparatiroidismo ereditario, isolato (PTH, GCM2, CASR) |
| Pan149 | Sindrome di Adams-Oliver (ARHGAP31, DOCK6, DLL4, EOGT, ITGB4, NOTCH1, PLEC, RBPJ) |
| Pan150 | Pseudoipoaldosteronismo (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4) |
| Pan151 | Sindromi da iperaccrescimento (AKT1, AKT3, APC2, CCND2, CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GNAQ, GPC3, HERC1, HIST1H1E, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, PPP2R5B, PPP2R5C, PPP2R5D, RNF125, TCF20) |
| Pan152 | Cataratta, isolata, esteso (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TAPT1, TDRD7, UNC45B, VIM, WDR87, WFS1) |
| Pan153 | Atassia spinocerebellare, classico plus (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, DNMT1, EEF2, ELOVL4, FGF14, GRID2, GRM1, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SETX, SNX14, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TRPC3, TTBK2, TTPA, TWNK, WWOX) |
| Pan154 | Atassia spinocerebellare, full at once (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GRID2, GRM1, FMR1, FXN, IFRD1, ITPR1, KCNC3, KCND3, NFASC, NOP56, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SCYL1, SETX, SLC9A1, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TDP2, TGM6, TMEM240, TRPC3, TTBK2, TTPA, TWNK, UBA5, VWA3B, WDR73, WWOX) |
| Pan155 | Atassia spinocerebellare, basic – SCA tipi 1, 2, 3, 6, 7, 17 (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP) |
| Pan156 | Atassia spinocerebellare, basic plus – SCA tipi 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 (ATXN1, ATXN2, ATXN3, ATXN7,ATXN8, ATXN8OS, CACNA1A, NOP56, PPP2R2B, TBP) |
| Pan157 | Miopatie distali (ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP) |
| Pan158 | Miopatie e patologie neuromuscolari, omnicomprensivo (ACTA1, ACTN2, ACVR1, ANO5, ATP2A1, B3GALNT2, BAG3, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DAG1, DES, DMD, DNA2, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLCN, FLNC, GAA, GGPS1, GIPC1 GMPPB, GNE, HACD1, HNRNPA1, HNRNPA2B1, IGHMBP2, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, MATR3, MEGF10, MSTN, MTM1, MTMR14, MYBPC1, MYF6, MYH14, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PLAGL1, PLEC, PLEKHG5, POLG, POLG2, POMGNT1 , POMT1, POMT2, POPDC3, PUS1, RRM2B, RYR1, SCN4A, SELENON, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TARDBP, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPA1, TRPV4, TTN, TWNK, UBA1, VCP, VMA21, VRK1, YARS2, mtDNA) |
| Pan159 | Displasie scheletriche, esteso (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSGALNACT1, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, FZD2, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1, NKX3-2, NOG, NSDHL, PAM16, PAPSS2, PCYT1A, PITX1, PTH1R, RNU4ATAC, ROR2, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, SOX9, TRAPPC2, TRIP11, TRPV4, WISP3, XYLT1) |
| Pan160 | Sindromi da deplezione del DNA mitocondriale (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK.) |
| Pan161 | Displasie scheletriche, classico (ACP5, AGPS, ALPL, ARSE, B3GAT3, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, KIF22, LBR, P3H1, LIFR, MATN3, MMP13, MMP9, NEK1, NKX3-2, NOG, NSDHL, PAPSS2, PCYT1A, PITX1, PTH1R, RMRP, RNU4ATAC, ROR2, RUNX2, SLC26A2, SMARCAL1, SOX9, TRAPPC2, TRIP11, TRPV4, WISP3, XYLT1) |
| Pan162 | Anemia congenita (ABCB7, ABCD4, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA1, BRCA2, BRIP1, C15ORF41, CDAN1, COX4I2, CUBN, DHFR, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FTCD, G6PD, GATA1, GIF, GLRX5, GPI, GSS, HBA1, HBA2, HBB, HFE, LMBRD1, KLF1, LPIN2, MMACHC, MMADHC, MTR, MTRR, NBN, PALB2, PC, PDHA1, PDHX, PIEZO1, PKLR, PUS1, RAD51C, RPL11, RPL15, RPL35A, RPL15, RPL26, RPL27, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, SBDS, SEC23B, SLC19A2, SLC25A38, SLC4A1, SLX4, SPTA1, SPTB, TCN2, THBD, TMPRSS6, TPI1, TRNT1, TSR2, XRCC2, YARS2) |
| Pan163 | Sindrome di Weill-Marchesani e Weill-Marchesani-like (ADAMTS10, ADAMTS17, FBN1, LTBP2) |
| Pan164 | Fibrosi cistica e sua diagnosi differenziale (ARMC4, C21ORF56, CA12, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP300, CFTR, DNAAF1, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, HYDIN, IL2RG, KTU, LRRC6, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCNN1A, SCNN1B, SCNN1G, SPAG1, TAP1, TAP2, TTC25, ZMYND10) |
| Pan165 | Immunodeficienza primaria (ADA, AICDA, AIRE, AK2, ATM, BAFFR B2M, BCL10, BLNK, BLOC1S6, BTK, CARD11, CARD14, CARD9, CASP10, CASP8, CD19, CD247, CD20, CD21, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD8A, CD81, CEBPE, CHD7, CIITA, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, FADD, FAS, FASLG, FCGR3A, FERMT3, FOXN1, FOXP3, FPR1, G6PC3, GATA2, GFI1, HAX1, ICOS, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRAK4, IRF7, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK3, LAMTOR2, LCK, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MBL2, MCM4, MEFV, MOGS, MS4A1, MVK, MYD88, NBN, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, ORAI1, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RBCK1, BLM, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RPSA, RTEL1, SAMHD1, SEMA3E, SH2D1A, SH3BP2, SLC29A3, SLC35C1, SLC37A4, SLC7A7, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TACI, TAP1, TAP2, TAPBP, TAZ, TBK1, TCF3, TCN2, TERC, TERT, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF12, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC7A, TYK2, UNC13D, UNC93B1, UNG, VPS13B, VPS45, WAS, WIPF1, XIAP, ZAP70, ZBTB24) |
| Pan166 | Polidattilia, escl. Bardet-Biedl e Joubert-Meckel (ACOX1, AKT3, ALX3, BHLHA9, BMP2, BMP4, BMPR1B, BMS1, SMG9, C2CD3, C5orf42, C8orf37, CCND2, CD96, CDC45, CDCA7, CDKN1C, CDON, CENPF, CEP120, CEP164, CHD4, CKAP2L, COG6, COL2A1, CRB2, CREBBP, DDX59, DHCR7, DLL3, DYNC2H1, DYNC2LI1, EBP, EFTUD2, EVC, EVC2, FBLN1, FGF10, FGF16, FGFR2, FGFR3, FLNA, FRAS1,GDF5, GDF6, GJA1, GLI2, GLI3, GPC3, H19, HNRNPK, HOXA11, HOXA13, HOXD13, HYLS1, IFT122, IFT140,IFT172,IFT43, IFT52, IFT80, IHH, KAT6B, KCNH1, KCNQ1OT1, KIAA0586, KIAA0753, KIF7, LBR, LMBR1, LRP4, MBTPS2, MEGF8, MEOX1, MKKS, NEK1, NOG, NPHP3, OFD1, OTC, PAPSS2, PHF8, PIK3CA, PIK3R2, PITX1, PORCN, PROM1, PTCH1, PTHLH, PUF60, RAB23, RBBP8, RBM10, BLM, RNU4ATAC, ROR2, SALL1, SALL4, SC5D, SEC61A1, SETBP1, SHH, SIX3, SLC26A2, SMOC1, SMO, SOX9, TBX1, TBX22, TBX3, TBX5, TCTN3, TFAP2A, TFAP2B, TGFBR1, TGFBR2, TGIF1, TP63, TRAF3IP1, TRPV4, TTC21B, TWIST1, UBE2T, UBE3B, UQCC2, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT10B, WNT7A, MAP3K20, ZIC2, ZNF141, ZSWIM6) |
| Pan167 | Malattie mitocondriali, geni del DNA nucleare (AARS, AARS2, AASS, ABAT, ABCB7, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, ALDH3A2, AMPD1, APOPT1, APTX, ARX, ASS1, ATP5A1, ATP5E, ATP5G3, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, C12orf65, CA5A, CHAT, CISD2, CLPP, COA5, COA6, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6B1, COX7B, CPT1A, CPT2, CYC1, CYCS, D2HGDH, DARS2, DBT, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, FXN, G6PC, GAMT, GARS, GATM, GCDH, GFER, GFM1, GFM2, GYS2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSPD1, IARS2, IBA57, IDH2, ISCU, L2HGDH, LARS, LARS2, LIAS, LRPPRC, LYRM4, LYRM7, MARS2, MCCC2, MFN2, MGME1, MICU1, MLYCD, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OGDH, OPA1, OPA3, OXCT1, PANK2, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PINK1, PNKD, PNPT1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, REEP1, RMND1, RRM2B, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SETX, SFXN4, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC37A4, SLC3A1, SLC52A2, SLC6A8, SOD1, SPG7, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMPO, TPK1, TRAP1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS, YARS2) |
| Pan168 | |
| Pan169 | Malattia Leventinese [o Drusen radiali dominanti o distrofia retinica a favo di Doyne] e sua diagnosi differenziale (ABCA4, BEST1, CFB, CFH, EFEMP1, TIMP3) |
| Pan170 | Sindrome del nevo basocellulare [sindrome di Gorlin o Gorlin-Goltz] (PTCH1, PTCH2, SUFU) |
| Pan171 | Dislipedemia (ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SLCO1B1) |
| Pan172 | |
| Pan173 | Cancro ereditario della mammella e dell’ovaio, essenziale (BRCA1, BRCA2) |
| Pan174 | Trombofilia (F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GP1BA, HRG, KLKB1, KNG1, LMAN1, MCFD2, MTHFR, PLAT, PROC, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, SERPINF2, THBD, VKORC1, VWF) |
| Pan175 | Convulsioni febbrili e generalized epilepsy with febrile seizures plus [GEFS+] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B) |
| Pan176 | Iperinsulinismo familiare (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2) |
| Pan177 | Insufficienza del midollo osseo (AK2, ANKRD26, ATM, ATR, ATRX, BRCA2, BRIP1, C15ORF41, CBL, CDAN1, CEBPA, CTC1, DKC1, ELANE, ETV6, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LIG4, MPL, NBN, NHP2, NOP10, PALB2, PAX5, RAD51C, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SLX4, SRP72, TCIRG1, TERC, TERT, TINF2, TP53, VPS45, WAS, WRAP53) |
| Pan178 | Acidosi tubulare renale (AGL, ALDOB, ATP6B1, ATP6V0A4, ATP6V1B1, CA2, CAD, CLCN5, CLDN16, CPT1A, EHHADH, EPG5, FBXL4, G6PC, GSS, HPD, JAG1, KYNU, LCT, NADK2, NOTCH2, OCRL, PC, RMND1, RRM2B, SLC26A6, SLC2A2, SLC4A1, SLC4A4, SUCLA2, TCIRG1, UQCC2, VPS33B, WDR72, WNK4, XDH) |
| Pan179 | Neutropenia congenita severa (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS) |
| Pan180 | Displasia ectodermica (CAMK2B, CDH3, EDA, EDA2R, EDAR, EDARADD, FZD6, GJB6, GREM2, GRHL2, HOXC13, IKBKG, JUP, MBTPS2, KDF1, KREMEN1, KRT14, KRT74, KRT85, MSX1, NECTIN1, NECTIN4, NFKBIA, ORAI1, PKP1, PRKD1, TP63, TRAF6, TWIST2, WNT10A) |
| Pan181 | Fibrosi polmonare familiare (TERT, TERC, SFTPC, SFTPA2) |
| Pan182 | Acromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H) |
| Pan183 | |
| Pan184 | |
| Pan185 | Sindrome di Meier-Gorlin e nanismo primordiale microcefalico (DONSON, ORC1, ORC4, GINS3, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC) |
| Pan186 | Sindrome di Smith-Lemli-Opitz e sua diagnosi differenziale, incl. s. di Meckel-Gruber, s. di Noonan, s. di Simpson-Golabi-Behmel e s. di Pallister-Hall (AHI1, ARL13B, B9D1, B9D2, BRAF,C5orf42, CBL, CC2D2A, CEP104, CEP290, CEP41, CSPP1, DHCR7, GLI3, GPC3, GPC4, HRAS, INPP5E, KIAA0556, KIAA0586, KIF7, KIF14, KRAS, LZTR1, MAPK1, MAP2K1, MAP2K2, MKS1, NF1, NPHP1, NPHP3, NRAS, OFD1, PDE6D, PTPN11, RAF1, RIT1, RPGRIP1L, SHOC2, SOS1, SOS2, SPRED1, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) |
| Pan187 | Difetti della glicosilazione, sperimentale (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, ALG14, B3GALT6, B3GAT3, B4GALNT1, B3GALNT2, B4GALT1, B4GALT7, CAD, CCDC115, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CPS2, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM3, EOGT, EXT1, EXT2, FKTN, FKRP, GALNT3, GANAB, GFPT1, GMPPA, GMPPB, GNE, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NANS, PGAP2, PGAP3, PGM1, PGM3, PMM2, POFUT1, POMGNT1, POMT1, POMT2, PRKCSH, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A8, ST3GAL3, ST3GAL5, TMEM165, TMEM199, TMEM5, VPS13B, XYLT1, XYLT2) |
| Pan188 | Neuropatia autonomica e sensoriale (ATL1, ATL3, DNMT1, DST, ELP1, GBF1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1) |
| Pan189 | Sequenza acinesia fetale e sindrome degli pterigi multipli [incl. sindrome di Escobar] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, NUP88, RAPSN, SLC18A3, SYNE1) |
| Pan190 | Sindrome di Baller-Gerold e sua diagnosi differenziale (ESCO2, RECQL4, SALL4, TBX5, TWIST) |
| Pan191 | Sindrome di Bohring-Opitz e sua diagnosi differenziale (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3) |
| Pan192 | Sindrome di Burn-McKeown e sindrome di Treacher-Collins (POLR1C, POLR1D, TCOF1, TXNL4A) |
| Pan193 | Sindromi branchiootiche e branchiootorenali (EYA1, SIX1, SIX5) |
| Pan194 | Cherubismo e sua diagnosi differenziale (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1) |
| Pan195 | Condrodisplasia puntata e sua diagnosi differenziale, escl. sindrome di Zellweger (AGPS, ARSE, DHCR7, EBP, GGCX, GLB1, GNPAT, GNPTAB, GNS, HGSNAT, MGP, NAGLU, NSDHL, PEX7, SGSH, SUMF1, VKORC1) |
| Pan196 | Sindrome di Griscelli e malattia da sovraccarico di acido sialico infantile (MLPH, MYO5A, RAB27A, SLC17A5) |
| Pan197 | Sindrome di Moebius (PLXND1, ?REV3L ) |
| Pan198 | Malattia di Camurati-Engelman e sua diagnosi differenziale (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B) |
| Pan2 | |
| Pan199 | Malattia di Canavan e sua diagnosi differenziale (AMT, ARSA, ASPA, GCDH, GCSH, GFAP, GLDC, HEXA, mtDNA) |
| Pan200 | Ipoplasia cartilagine-capelli, displasia aneuxetica e loro diagnosi differenziale (COL10A1, DCLRE1C, ELANE, G6PC3, PTH1R, RAG1, RAG2, RMRP, SBDS, SMARCAL1, WAS) |
| Pan201 | Miopatia congenita central core e sua diagnosi differenziale (ACTA1, CFL2, MYH7, RYR1, SELENON, TNNT1) |
| Pan202 | Xantomatosi cerebrotendinea e sua diagnosi differenziale (ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LPL, PCSK9 ) |
| Pan203 | Sindrome di Coffin-Lowry e sua diagnosi differenziale (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4 ) |
| Pan204 | |
| Pan205 | Fibrosi congenita dei muscoli extraoculari e sua diagnosi differenziale (CHN1, HOXA1, KIF21A, PEO1, PHOX2A, POLG, ROBO3, SALL4, SLC25A4, TMPO, TUBB2B, TUBB3, mtDNA) |
| Pan206 | Porfiria, spettro della (ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS) |
| Pan207 | Sindrome di Floating-Harbor e sua diagnosi differenziale (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP) |
| Pan208 | Ipoplasia dermica focale e sua diagnosi differenziale (HCCS, IKBKG , PORCN, RECQL4, TP63) |
| Pan209 | Neuropatia ad assoni giganti e sua diagnosi differenziale (ARSA, ATP7A, EGR2GAN, GDAP1, MTMR2, PLA2G6, SBF1, SBF2, SH3TC2) |
| Pan210 | Malattia di Niemann-Pick (NPC1, NCPC2, SMPD1 ) |
| Pan211 | Poichilodermia (FAM111B, FERMT1, RECQL4, USB1) |
| Pan212 | Sindromi progeroidi (ANTXR1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, BANF1, ERCC1, ERCC2, ERCC4, ERCC8, FBN1, GH1, IGF1R, KCNJ6, LMNA, PDGFRB, PIK3R1, POLD1, PSMB8, PYCR1, SLC25A24, SPRTN, TOP3A, ZMPSTE24) |
| Pan213 | Xeroderma pigmentoso e sua diagnosi differenziale (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC) |
| Pan214 | Tricotiodistrofia (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A) |
| Pan215 | Mucolipidosi (GNPTAB, GNPTG, MCOLN1 ) |
| Pan216 | Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5, LTBP4, PYCR1) |
| Pan217 | Epilessia familiare mioclonica dell’adulto (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A) |
| Pan218 | Epilessia familiare focale a loci variabili (DEPDC5, NPR2L, NPR3L, SCN3A) |
| Pan219 | Epilessia progressiva mioclonica (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2) |
| Pan220 | Epilessia familiare del lobo temporale (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1) |
| Pan221 | Epilessia notturna del lobo frontale (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1) |
| Pan222 | Malattia granulomatosa cronica (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4) |
| Pan223 | |
| Pan224 | Emofilia e altri disordini della coagulazione (ACTN1, ANO6, CD36, F2, F5, F7, F8, F9, F11, FGA, FGG, FGG, FLI1, GFI1B, GP1BA, GP1BB, GP6, GP9, HEXA, ITGA2B, ITGB3, LMAN1, MYH9, NBEAL2, P2RY12, PAI1, PLAU, PRKACG, RASGRP2, SLFN14, TBXAS1, VWD ) |
| Pan225 | Sindrome di Perrault (CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK) |
| Pan226 | Porencefalia e schizencefalia (COL4A1, COL4A2, EMX2, SHH, SIX3) |
| Pan227 | Insufficienza ovarica precoce (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, POLR3H, STAG3, SYCE1, TP63) |
| Pan228 | Glaucoma primario congenito e sua diagnosi differenziale (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, SPATA13, TEK, WT1) |
| Pan229 | Iperossaluria primaria (AGXT, GRHPR, HOGA1) |
| Pan230 | Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX) |
| Pan231 | Insufficienza della spermatogenesi (AK7, ARMC2, AURKC, BRDT, CATSPER1, CEP19, CFAP43, CFAP44, CFAP69, DNAH1, DPY19L2, FANCM, FSIP2, KLHL10, MEIOB, NANOS1, NR5A1, PMFBP1, PLCZ1, SEPT12, SLC26A8, SOHLH1, SPATA16, SPINK2, SUN5, SYCE1, SYCP3, TAF4B, TEX11, TEX14, TEX15, TDRD9, TSGA10, WDR66, ZMYND15) |
| Pan232 | Atrofia muscolare spinale (AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, DYNC1H1, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, SIGMAR1, SLC5A7, SMN1, SMN2, TRIP4, TRPV4, UBA1, VAPB, VRK1) |
| Pan233 | Deficit di lipasi acida lisosomiale (Wolman/CESD and its differential diagnosis ) |
| Pan234 | Sindromi linfoproliferative X-linked e autosomiche (CD27, ITK, SH2D1A, XIAP) |
| Pan235 | Paralisi periodica, ipercalemica, ipocalemica, tireotossica, e sindrome di Andersen-Tawil (CACNA1S, KCNJ18, KCNJ2, RYR1, SCN4A) |
| Pan236 | Epilessia, tutti i geni (ADSL, ALDH5A1, ALDH7A1, ALG13, AMACR, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAD1, GAMT, GATM, GBA, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, NEXMIF, LGI1, MAGI2, MARCHF6, MBD5, MECP2, MEF2C, MFSD8, MTHFR, NALCN, NGLY1, NHLRC1, NOTCH3, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGU, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRICKLE1, PRRT2, PTPN23, PURA, QARS, RAPGEF2, SAMD12, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SEMA6B, SLC13A5, SLC19A3, SLC20A2, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STARD7, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, THG1L, TNRC6A, TPP1, TRIM8, TRPM3, TSC1, TSC2, UBE3A, WDR45, WWOX, YEATS2, YIF1B, ZEB2, mtDNA) |
| Pan237 | Distrofia maculare vitelliforme, altre distrofie maculari e loro diagnosi differenziale, basic (ABCA4, BEST1, CFB, CFH, CNGB3, EFEMP1, ELOVL4, IMPG1, IMPG2, PROM1, PRPH2, RP1L1, TIMP3) |
| Pan238 | Distrofia maculare vitelliforme, altre distrofie maculari e loro diagnosi differenziale, esteso, incl. distrofie dei coni e dei coni e bastoncelli (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CFB, CFH, CNGB3, CNNM4, CRX, DRAM2, EFEMP1, ELOVL4, GUCA1A, GUCY2D, IMPG1, IMPG2, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RP1L1, RPGR, RPGRIP1, SEMA4A, TIMP3, TTLL5, UNC119) |
| Pan239 | Miopia (ARR3, CFAP53, CPSF1, HS6ST2, LRPAP1, P4HA2, SCO2, SLC39A5, ZNF644) |
| Pan240 | Displasia fibrosa poliostotica/sindrome di McCune-Albright e sua diagnosi differenziale (GNAS, HRAS, NF1, NRAS, SH3BP2) |
| Pan241 | Resistenza all’ormone tiroideo e ipotiroidismo congenito senza gozzo (NKX2-5, PAX8, THRA, THRB, TSHB, TSHR ) |
| Pan242 | Sindrome da iper-IgE e sua diagnosi differenziale, incl. immunodeficienza 35, sindrome di Wiskott-Aldrich, sindrome di Netherton e sindrome di Omenn (DCLRE1C, DOCK8, IL2RG, RAG1, RAG2, SPINK5, STAT3, TYK2, WAS, ZNF341) |
| Pan243 | Esostosi multiple (EXT1, EXT2) |
| Pan244 | Miopatia centronucleare (BIN1, DNM2, CCDC78, MTM1, MTMR14, MYF6, PLAGL1, SPEG, RYR1) |
| Pan245 | Deficit congenito di sintesi degli acidi biliari (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7) |
| Pan246 | Sindrome di Rubinstein-Tayibi (CREBBP, EP300) |
| Pan247 | Immunodeficienza comune variabile(CD19, CD81, CR2, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, TNFRSF13B, TNFRSF13C) |
| Pan249 | Sindrome di Moebius (PLXND1, REV3L, TUBB3) |
| Pan250 | Sindrome di Zimmermann-Laband (ATP6V1B2, KCNH1, KCNN3) |
| Pan250 | Sindrome di Zimmermann-Laband (ATP6V1B2, KCNH1, KCNN3) |
| Pan251 | Galattosemia (GALE, GALK1, GALM, GALT) |
| Pan251 | Galattosemia (GALE, GALK1, GALM, GALT) |
| Pan253 | Immunodeficienze autoinfiammatorie (CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SH3BP2, TNFRSF1A) |
| Pan254 | Sindrome di Seckel (ATR, CEP152, CEP63, CENPJ, DNA2, NIN, NSMCE2, RBBP8, TRAIP) |
| Pan255 | Sindrome di Sotos (NFIX, NSD1, APC2) |
| Pan256 | Sindrome di Kabuki (KDM6A, KMT2D) |
| Pan257 | Iperplasia adrenogenitale congenita (CYP11B1, CYP21A2, CYP17A1, HSD3B2, POR, STAR) |
| Pan258 | Distrofie retiniche, non-sindromiche o paucisindromiche, esteso (ABCA4, ADAM9, AGBL5, AHR, ARHGEF18, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CDH3, CDHR1, CEP290, CERKL, CFB, CFH, CHM, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, COL4A1, CRB1, CRX, CTNNA1, CYP4V2, DHDDS, DHS6S1, DHX38, DRAM2, EFEMP1, ELOVL4, EYS, FAM161A, FSCN2, GDF6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IGFBP7, IMPDH1, IMPG1, IMPG2, IFT140, IFT172, IFT43, IQCB1, ITM2B, KCNV2, KIAA1549, KIZ, KCNJ13, KLHL7, LCA5, LRAT, MAPKAP3, MAK, MERTK, MIR204, MVK, NEK2, NMNAT1, NR2E3, NRL, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PCARE, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PGK1, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PIKFYVE, RBP3, RBP4, RDH12, REEP6, RAB28, RAX2, RCBTB1, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, SAG, SEMA4A, SIX6, SLC7A14, SNRNP200, SPATA7, SSBP1, TGFBI, TIMP3, TOPORS, TTC8, TTLL5, TUB, TULP1, UNC119, USH2A, ZNF408, ZNF513) |
| Pan259 | Eritrocitosi (BPGM, EGLN1, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL) |
| Pan260 | Ipercalcemia (AP2S1, CASR, CYP24A1, GNA11, SLC34A1) |
| Pan261 | Demenza a corpi di Lewy (APOE, GBA, CYP2D6, LRRK2, PRNP, PSEN2, SNCA, SNCB) |
| Pan262 | Deficit isolato dell’ormone della crescita (GH1, GHRHR, BTK, RNPC3) |
| Pan263 | Anemia emolitica (ABCB6, ABCG8, ADAMTS13, AK1, ANK1, ALDOA, ATP11C, BPGM, C3, CASP10, CD46, CD59, CFB, CFHR5, CFI, CPOX, DGKE, FAS, FASLG, EPB41, EPB42, FOXP3, G6PD, GCLC, GPI, GSS, GSR, HK1, IL2RB, KCNN4, KRAS, LCAT, LRBA, NRAS, NT5C3A, PFKM, PGK1, RHAG, RHCE, SLC2A1, SLC4A1, SPTA1, SPTB, THBD, TPI1, UROS) |
| Pan264 | Diarrea, congenita, cronica (DGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PERCC1, PLVAP, SLC26A3, SLC9A3, SPINT2, STX3, STXBP2, WNT2B) |
| Pan265 | Sindrome da iper-IgE ed eosinofilia (ADA, ASXL1, BCL11B, CAPN3, CARD11, CARD14, CASP10, CD247, CHD7, DCLRE1C, DNMT3A, DOCK8, ELANE, EXTL3, FAS, FASLG, FLG, FOXP3, IL2RG, IL6R, IL6ST, IL7R, JAK1, LIG4, NLRP1, PDGFRA, PDGFRB, PGM3, RAG1, RAG2, RBM8A, RMRP, SLC46A1, SPINK5, STAT3, TET2, TRAC, WAS, ZAP70, ZNF341) |
| Pan266 | Panipopituitarismo (GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3) |
| Pan267 | Variazioni del ritmo cicardiano (ARNTL, ARNTL2, BHLHE40, BHLHE41, CLOCK, CRY1, CRY2, CSNK1E, CSNK2A1, DEC2, FBXL3, FBXL21, NFIL3, NR1D1, NR1D2, PER1, PER2, PER3, RORA, RORB, RORC, TIMELESS) |
