Multisystemic diseases

JAG1, NOTCH2

VIPAS39, VPS33B

EYA1, SIX1, SIX5, TFAP2A

BRAF, KRAS, MAP2K1, MAP2K2, SHOC2, SOS1

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, ALDH18A1, ALPL, ARIH1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, CSGALNACT1, DCHS1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FGFR3, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GGCX, GORAB, HCN4, IMPAD1, KCNJ2, KIF22, LEMD3, LOX, LRP2, LTBP1, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG, NOTCH1, NT5E, P3H1, PKD2, PLOD1, PLOD3, PLP1, PRDM5, PRKG1, PYCR1, RIN2, SERPING1, SHOC2, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, TAB2, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, UPF3B, VCAN, ZNF469

ADNP, AFF4, ANKRD11, ARID1A, ARID1B, ASXL1, BRD4, CREBBP, EP300, ESCO2, HDAC8, KDM6A, KMT2A, KMT2D, MED13L, NAA10, NIPBL, PACS1, PHF6, PHIP, RAD21, ROR2, SETD5, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, TBC1D24, WNT5A, ZMYND11

LIG4, NSUN2

ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, LOX, LTBP4, LZTS1, P3H1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

ADRA2A, AGPAT2, AKT2, ATP6V0A2, BANF1, BLM, BSCL2, CAV1, CAVIN1, CIDEC, ERCC6, ERCC8, FBN1, IGF1R, KCNJ6, LIPE, LMNA, LMNB2, MFN2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PSMB9, SPRTN, TBC1D4, WRN, ZMPSTE24

FRAS1, FREM1, FREM2, GRIP1

GBA, PSAP

ACVR2B, ADGRV1, AHI1, AIPL1, AK7, ALG8, ALMS1, ANKRD11, ANKS6, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL3, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BICC1, BMP2, BMPR1B, C2CD3, C8orf37, CABP4, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CDH23, CDH3, CELSR2, CEP120, CEP164, CEP19, CEP290, CEP41, CEP83, CFAP298, CFAP410, CFAP53, CFC1, CFTR, CHSY1, CITED2, CLRN1, CNGA3, CNGB3, COMP, CPE, CPLANE1, CRB1, CRB2, CRELD1, CRX, CSPP1, DCDC2, DDX59, DHCR7, DLX5, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DOCK6, DPCD, DRC1, DYNC2H1, ESCO2, EVC, EVC2, EXOC4, EXOC8, FAN1, FBN3, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FOXH1, FOXJ1, GAS2L2, GATA4, GDF1, GDF5, GDF6, GLI2, GLI3, GLIS2, GNAS, GNAT2, GUCY2D, HDAC4, HDAC8, HNF1B, HOXD13, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IHH, IMPDH1, INPP5E, INTU, INVS, IQCB1, KCNJ13, KIF14, KIF7, LBR, LCA5, LEFTY2, LMBR1, LRAT, LRP4, LRP5, LRRC6, LZTFL1, MERTK, MGP, MKKS, MKS1, MRE11, MUC1, MYCN, MYO7A, NEK1, NEK8, NIPBL, NKX2-5, NME8, NMNAT1, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NSDHL, OFD1, OTX2, PCDH15, PDE6D, PDE6H, PHF6, PIAS1, PIBF1, PIGV, PKD1, PKD1L1, PKD2, PKHD1, PMM2, PNPLA6, POC1B, POLL, PRKCSH, PRPH2, PTHLH, RAD21, RBPJ, RD3, RDH12, RDH5, RECQL4, ROM1, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH4A, RSPH9, SALL1, SALL4, SBDS, SCAPER, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC63, SHH, SHROOM3, SLC4A4, SMAD2, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SNRNP200, SOX9, SPAG1, SPATA7, SPEF2, STK36, SUFU, TBX15, TBX3, TBX5, TCTN1, TCTN2, TCTN3, THPO, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TP63, TRAF3IP1, TRIM32, TSC1, TSC2, TTBK2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, USP9X, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, WNT10B, WNT3, WNT5A, WNT7A, XPNPEP3, ZIC3, ZMYND10, ZNF423

APOA1, APOA2, APOE, APP, ASXL1, B2M, CCND1, COL7A1, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, KIT, LIG4, LYZ, MEFV, MMP1, NLRP1, NLRP3, OSMR, POLA1, PRNP, PSEN2, RET, SAA1, SLC7A7, TACSTD2, TET2, TGFBI, TNFRSF1A, TTR

FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLNA, FOXE3, GORAB, KIF22, LOX, LTBP4, MED12, MSTN, MYH11, MYLK, NOTCH1, P3H1, PLOD1, PLOD2, PLOD3, PPIB, PRDM5, PYCR1, RIN2, SERPINH1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SP7, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, VCAN, ZDHHC9, ZNF469

LIG3, POLG, RRM2B, TYMP

ACTB, ACTG1, BMP2, BRAF, CABIN1, CBL, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1

C2CD3, CPLANE1, DDX59, INTU, KIF7, NEK1, OFD1, PDE6D, SCLT1, TCTN3, TMEM138, TMEM216, TMEM231, TOPORS, WDPCP

AGPAT2, AKT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BLM, BSCL2, CAV1, CAVIN1, CIDEC, COL3A1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, GJA1, GORAB, INSR, KCNJ6, LMNA, LMNB2, MMP2, NAA10, PDGFRB, PIK3R1, PLIN1, POLD1, PPARG, PYCR1, RECQL4, RNF113A, SQSTM1, TBC1D4, TNFRSF11A, TREM2, TYROBP, WNK1, WRN, ZMPSTE24

ACTB, ACTG1, BMP2, BRAF, CABIN1, CBL, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1

ANXA11, BTNL2, CCR5, CNN2, CXCR4, HLA-DPB1, HLA-DQB1, HLA-DRB1, HSPA1L, IL23R, LTA, MANBA, NOD2, NOTCH4, RAB23, SH2B3, SLC11A1, TAB2, TAP2, ZNF592 RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1

SKIV2L, TTC37

TSC1, TSC2

AP1S1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, COG2, CP, PGM1, SCO2, SLC30A10, SLC33A1, SLC3A1, TMPRSS6