Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

Genes related to Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome

ZBTB20

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Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment
Scoliosis
Ataxia
Neoplasm
Micrognathia

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome Is also known as primrose syndrome, ossified ear cartilages with mental deficiency, muscle wasting, and bony changes.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...) View the complete list with 21 more genes Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...) View the complete list with 21 more genes Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %
Primrose Syndrome via ZBTB20 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ZBTB20 Specificity 100 % Genes 100 %
Mental retardation - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...) View the complete list with 845 more genes Panel complete gene list RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, CA2, CA5A, SLC12A5, CA8, CNTNAP2, CACNA1C, CACNA1G, CACNA2D2, HDAC4, FMN2, CCDC78, NSD1, CAD, RAB18, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, SCYL1, ACTG1, ELOVL4, TMEM237, MRPS22, ARHGEF9, DEAF1, CAPN10, COG5, ZEB2, PIGT, PPP1R15B, CASK, SNX14, CASP2, MICU1, CBL, SHOC2, MBTPS2, GPHN, ANKH, CBS, PUS1, JAM3, SETBP1, ALG9, LRPPRC, GEMIN4, ADNP, CCNA2, BSCL2, KMT2B, ARFGEF2, PANK2, NDUFAF5, PLCB1, SAMHD1, APTX, MPLKIP, PCNT, SFXN4, TBC1D20, MGME1, DNAJC5, UPB1, TRIM32, NLRP3, RAB39B, FBXO31, TUBGCP4, BCAP31, ZNF423, UBR1, COQ8A, FIG4, HAX1, STAMBP, ZMYND11, SRCAP, CLP1, RAB3GAP1, EXOSC2, ACVR1, CDON, RAB3GAP2, COLEC11, CENPJ, WAC, BRWD3, GMNN, GJC2, CDH15, KAT6B, NDE1, PORCN, ACY1, CDK5, PDSS1, CDK6, AFF4, PGAP2, EXOSC3, CEP83, FKRP, ARID2, ARID1B, ARX, GPT2, SPATA5, TUBGCP6, PHF6, TMCO1, ELP2, PECR, ALG1, ATP6AP2, ASXL1, PRIMA1, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, CENPE, SLC39A6, COG4, COG6, COG7, COG8, IFT27, RTTN, PMPCA, CDK5RAP2, ASCC3, NAA10, BBS7, POGZ, KCNT1, MMAA, IFIH1, GBA2, ASPM, THOC2, NALCN, POMGNT1, CHD2, FRAS1, DOCK7, ALG12, CHKB, COQ4, CNKSR1, CNKSR2, POMT2, ISCA2, SLC25A22, TECPR2, KIAA0586, CCDC88C, AARS, SNX27, TTC8, CHD8, SLC35C1, B3GLCT, CLCN4, SPRED1, NUBPL, CHAMP1, SMOC1, UBR7, FRY, NDUFA11, UPF3B, MBD5, APOPT1, L2HGDH, ZC3H14, CYP2U1, CHD7, CLIC2, PHF8, TPP1, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, CLN8, BCOR, HACE1, SERAC1, FARS2, TBC1D7, RNF125, GTF2H5, RMND1, ANKRD11, DYM, PDHX, ABHD5, INPP5E, ACAD9, AHI1, SATB2, RNASET2, BRAT1, VPS13B, RBM28, COL18A1, KCTD7, COL4A1, COL4A2, COL4A3BP, ADAR, COX10, COX15, GMPPA, GMPPB, MED13L, PEX26, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PNPT1, PIGO, ETHE1, ACBD6, CRADD, DOLK, KIF1BP, CREBBP, DHTKD1, PGAP3, MED23, MED17, NDUFA12, APC2, RNASEH2C, PTRH2, POC1A, WDR62, TCTN3, MMACHC, NECAP1, KANSL1, FAM126A, SIL1, EHMT1, FTO, SMC3, RABL6, MFF, MOGS, CEP104, LARP7, VPS37A, ZC4H2, CTDP1, TMEM216, WDR45B, PRMT9, CTNNB1, ADAT3, MMADHC, COQ2, AHDC1, ZCCHC8, CTSD, CTSF, DDX59, KATNAL2, RAB40AL, ARL13B, TANGO2, FRMD4A, ANO10, CCDC88A, DARS2, CUL4B, PRMT7, SETD5, TTC21B, OFD1, RNASEH2B, ADK, PGAP1, LAS1L, TRAPPC11, TCTN2, CPLANE1, SRD5A3, CEP63, MFSD2A, POMGNT2, WDR73, GON4L, TRMT1, PIGG, NSUN2, KRBOX4, PIGV, TCTN1, TMEM135, CSPP1, FAR1, TM4SF20, TTI2, POMK, NARS2, BBS10, HEPACAM, PTCHD1, HGSNAT, UNC80, WDR81, BBS12, DAG1, DARS, C12orf65, CKAP2L, HIKESHI, TMEM138, DBT, METTL23, PARP1, DCX, DDC, ESCO2, DDOST, ACSF3, DDX3X, WDPCP, BBIP1, CCDC28B, CCDC115, ADRA2B, D2HGDH, TMEM67, TRMT10A, MFSD8, DHCR24, B3GALNT2, DHCR7, DHFR, CYB5R3, DIAPH1, MED25, NIPBL, MAGT1, DKC1, CCDC22, WDR45, EMC1, DLD, WASHC5, FRMPD4, SETD1A, KDM6B, DLG3, CEP290, SZT2, ZBTB40, IQSEC2, KIAA0556, KDM1A, CEP135, ADSL, DDHD2, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, CEP152, ZSWIM6, DMPK, EPG5, KLHL15, ASXL3, ZNF526, EARS2, RSPRY1, CCBE1, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, DNM1, DNM1L, DNMT3A, DNMT3B, DCPS, DPAGT1, BBS9, DPH1, PACS1, DPM1, DPM2, DPM3, POLR3A, DPP6, DPYD, CRBN, ATP13A2, RFT1, CC2D1A, TUSC3, PYCR2, POLR3B, IFT172, KIF7, PRRT2, DNAJC19, STT3B, STRA6, CLPB, TMEM165, GATAD2B, TUBB2B, TRAPPC9, POC1B, EFTUD2, ALG13, HUWE1, DYRK1A, LINS1, SLC6A17, AGA, EEF1A2, EEF1B2, MEGF8, ALG11, AGPAT2, EIF2AK3, EIF2S3, EMX2, ENTPD1, EP300, AHCY, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EZH2, ACSL4, FANCD2, FASN, AK1, FKTN, FGD1, FGFR1, FGFR2, FGFR3, FH, TMEM231, ISPD, FLNA, FMR1, AFF2, FOXG1, FOXP1, AKT3, MTOR, PET100, FUCA1, ALDH3A2, GABRA1, ALDH5A1, GABRB3, GAD1, GALE, B4GALNT1, GALT, GAMT, GATM, GCH1, GCSH, GDI1, GFAP, GK, GLDC, GLI2, GLI3, GNAO1, GNAS, GNPAT, GNS, GPC3, GABBR2, ADGRG1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2E2, GUSB, AMT, HIST3H3, HIST1H4B, HSD17B10, HCCS, HCFC1, HCN1, HERC2, HESX1, ANK3, HLCS, HMGB3, HNRNPK, HOXA1, HPD, HPRT1, HRAS, IDS, IDUA, IGF1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, IKBKG, IL1RAPL1, ABCC9, IMPA1, INPP4A, ABCD1, STT3A, ITPA, KATNB1, KCNA2, KCNB1, KCNH1, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KIF2A, KIF5C, KIF11, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, COG1, LIG4, LRP2, LZTFL1, LZTR1, MAB21L2, SMAD4, MAF, MAG, ABCD4, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MASP1, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MEIS2, MGAT2, MID1, MID2, MKKS, MKS1, KMT2D, MLYCD, MOCS1, MOCS2, MPDU1, MPDZ, MPI, ASAH1, MT-CO1, MT-CO2, MT-CO3, ASL, MT-ND5, MTR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MMUT, ASNS, MVK, MYCN, ASPA, MYO5A, MYT1L, NAGA, NAGLU, NBN, NDP, NDST1, NDUFA1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, PNP, NPHP1, NR2F1, NRAS, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, OCLN, OCRL, ATP2A2, OPHN1, ORC1, OTX2, ATP6V1B2, PAFAH1B1, PAK3, PAX6, PC, ATP7A, AIFM1, PDE4D, PDE6D, PDHA1, ATR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX6, ATRX, PEX7, KIF1A, PGK1, AUH, PGM1, PGM3, PHGDH, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PLP1, PMM2, PNKP, POMT1, B4GALT1, PPOX, B4GALT7, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKCG, PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN Specificity 1 % Genes 100 %
ZBTB20. By Fulgent Genetics Fulgent Genetics (United States). ZBTB20 Specificity 100 % Genes 100 %
Tempus xO assay. By Tempus Labs, Inc. (United States). BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...) View the complete list with 1627 more genes Panel complete gene list BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1, RPS6KB2, RRM1, CLIP1, RUNX1, RUNX2, RUNX3, RUVBL1, RXRA, RYK, RYR1, RYR2, BID, BLK, BLM, SCN5A, BMI1, SDHA, SDHB, SDHC, SDHD, BMPR1A, SET, SETDB1, SETMAR, SF3A1, SF3B1, BMPR1B, SFPQ, SFRP1, SRSF2, BMX, SGK1, SH2D1A, SH3GL1, SHB, SHC1, SEM1, SHH, PRMT5, SKI, SKIL, SKP2, FOXL2, SLC15A2, SLC19A1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO2B1, SLC22A1, SLC22A2, SLC22A3, BRAF, SLC22A6, BRCA1, BRCA2, BRD1, BRD2, BRD3, SLC6A3, BRDT, SLC6A4, SLIT2, SMARCA1, SMARCA2, HLTF, SMARCA4, SMARCA5, SMARCB1, SMARCC1, SMARCD1, SMARCD2, SMARCD3, SMARCE1, ARID1A, SMC1A, SMC1B, KDM5C, KDM5D, SMO, SOS1, SOS2, SOX1, SOX10, SOX2, SOX21, SOX3, SOX8, SOX9, SP100, SP3, BTC, SPI1, SPIB, SPOP, SPRY2, SPRY3, SRC, SRMS, BTG1, BTG2, BTG3, ABI1, BTK, SSTR1, SSTR2, SSTR3, SSTR4, SSX1, SSX2, SSX3, SSX4, SS18, STAG1, STAG2, STAT1, STAT2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, AURKB, AURKC, AURKA, PLK4, STK19, NEK4, STK3, STK4, BTRC, SULT1A1, SUV39H1, BUB1, BUB1B, SYK, BUB3, EPCAM, TAF1, TAF15, TAL1, TAL2, TBL1X, TBP, TBX18, TBX2, TBX22, TBX3, TBXAS1, ELOC, HNF1A, TCF12, HNF1B, TCF3, TCF4, TCF7, TCF7L1, TCF7L2, TCL1A, TCL1B, TEAD1, TEAD2, TEAD3, TEAD4, TEC, TEF, TEK, TERC, TERF1, TERT, TFE3, TFEB, TFEC, TFG, TGFA, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TIE1, TRIM24, TINF2, NKX2-1, TLK1, TLK2, TLR1, TLR2, TLR4, TLR5, TMPRSS2, TNFAIP3, TNFRSF14, TNFRSF17, CD40, FAS, CD40LG, FASLG, CD70, TNK1, TNKS, TNNI3, TNNT2, ZNF384, MED12, TOP1, TOP2A, TOP2B, TP53, TP53BP1, TPM1, TPMT, TPTE, TRAF1, TRAF2, TRAF3, TRAF6, TRIO, JMJD1C, TRRAP, TSC1, TSC2, TWIST1, TXK, TYK2, TYRO3, U2AF1, UBE2D1, UBE2D2, UBE2D3, UBE4A, UGT1A1, UGT1A4, UHRF1, UHRF2, USP9X, USP9Y, KDM6A, UTY, VAV1, VAV2, VAV3, VDR, VEGFA, VEGFB, VEGFC, VHL, WAS, WASL, BRWD1, NSD2, NSD3, CCN4, WNT1, WNT10B, WNT11, WNT9A, WNT9B, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT6, WNT7A, WNT7B, WNT8A, WNT8B, WRN, WT1, XBP1, XPA, XPC, XPO1, XRCC2, YES1, YWHAB, YWHAE, YWHAH, YWHAQ, YWHAZ, YY1, ZAP70, ZBTB16, SF1, ACTA2, ZNF217, KAT6A, ZMYM3, PATZ1, EML4, IKZF1, IKZF2, IKZF3, BCL11A, BCL11B, LGR4, HDAC8, KDM3B, NEK7, NEK8, PBX4, TRAF3IP2, SAMD9, ZBTB20, TLX3, BRD4, FBXO8, FBXO11, KDM2A, FBXW11, KDM2B, MAML1, IL22RA1, FOSL1, CTCF, KMT2C, ASPSCR1, WNT10A, FOXP2, CACNA1C, CACNA1S, PRDM8, PRDM9, PRDM11, PRDM12, PRDM13, PRDM15, PRDM16, PRDM14, MGA, SMC2, SMC4, CACNB2, HDAC4, HDAC6, HDAC9, HDAC7, HDAC5, BACH2, EHMT2, BLNK, CIC, RBM14, NSD1, BRPF1, BRPF3, RAB23, CRLF2, ACTC1, XIRP2, MRTFA, NLRP1, NHP2, NOP10, CDK15, GAB2, RNF213, WNK1, WNK2, WNK3, WNK4, CALR, IKBKE, ZEB2, IL22RA2, PPP1R1C, RBM15, CASP8, RUNX1T1, CBFA2T2, CBFA2T3, CBFB, CBL, CBLB, SHOC2, DIAPH3, CBX1, SMYD3, PICALM, CBX2, CBX3, CBX4, CBX5, CBX6, CBX7, SETBP1, SS18L1, TLR7, TLR8, TLR9, TLR10, PHIP, TNKS2, GATA5, CCND1, CCND2, KMT2B, CCND3, PRPF6, CCNE1, CCNE2, PAK5, CBLC, CBX8, TP63, WNT3A, HES2, MOB1A, MED12L, ZNF444, PAK4, PAK6, CRTC1, MLLT10, DUSP22, TRIB3, CTCFL, MAML2, YAP1, WNT5B, WNT16, MAML3, TRIM33, NKX2-8, CD1D, TRIM28, HSPBAP1, CARD11, CARD6, CARD10, CD22, SUFU, ACSL6, CD28, KIF1B, ZBTB33, TLR6, FBXW7, SHC4, ZNF423, CDC73, UBR5, SMURF1, SMURF2, CD44, DACH2, CHD5, TAOK2, ESPL1, BCLAF1, RNF40, ARNT2, REC8, TRIB1, HAX1, RAD51AP1, ZMYND11, FRS3, FRS2, CD79A, CD79B, MLLT11, CD80, KAT7, CD86, CARD8, PALLD, KDM4C, ARHGAP26, ICOSLG, SYNE1, NCSTN, DICER1, ACVR1, SUZ12, HIF1AN, SP140, ADAMTS20, CDC14A, ACVR1B, STK36, CDK1, RAD54B, CDC20, CDC25A, SPDEF, CDC25B, CDC25C, PNRC1, POT1, SUV39H2, CDK11B, TPTE2, ACVR2A, CDK11A, CDK13, BRWD3, CDC42, ARID5B, ACVR2B, CDC6, CDH1, CDH10, CDH11, MINK1, SPEN, STARD3, KAT6B, CDH2, CDH20, CDH3, CD274, PERP, CDH5, CDH7, RABEP1, CDK10, CDK2, CDK3, SPRED2, CDK4, CDK5, CDK6, CDK7, CDK8, SAV1, CDK9, CDKN1A, ADGRA2, CDKN1B, CDKN1C, TRAF3IP1, BBC3, CDKN2A, CDKN2B, LMTK2, RBMXL2, CDKN2C, CDKN3, KAT8, IL17RB, TMC6, ARID2, KDM5B, ARID1B, CDX1, TAF1L, CDX2, ARX, EMSY, WIF1, SOX17, ZNRF3, HDAC10, TAOK3, PHF6, ETV7, FKBP10, CMPK1, SHC3, DCUN1D1, RAB25, PRMT6, ASXL1, CEBPA, CEBPB, CEBPD, IL17RC, CEBPE, CEBPG, CECR2, SETD2, RNF43, KMT2E, CENPE, FEV, ADGRL2, IFNLR1, MSI2, NEK9, NEK11, LRRK2, CES1, CES2, ZBTB7B, CCNB3, GLCCI1, PDCD1LG2, CCDC6, CAMTA1, CREB3L4, CREB3L1, STYK1, MAGI2, MAST1, MAST2, CHD6, CKS1B, HDAC11, ASH1L, IL23R, CD276, CHD1, CHD1L, CHD2, CHD3, CHD4, CHEK1, FOXN3, EPHA6, TNK2, PIM3, CDK19, CHIC1, CHIC2, JMJD6, SOCS1, ING4, SBDS, ADAM17, PLK2, CNKSR1, LGR6, CHUK, SRGAP3, BRD8, GALNT12, CKS2, PCSK9, GREM1, VGLL2, SPRED1, AJUBA, SETDB2, PDS5B, TRAF7, SMC5, SMC6, LSM1, BRIP1, TMC8, SETD3, CCNL1, CYP2R1, DIS3, PHLPP1, CHD7, TWIST2, PHF8, ELP3, FANCL, KDM3A, FOXP4, RSPO3, BCOR, FOXQ1, ADGRL3, SMYD2, VGLL1, SMYD1, AATK, RHOT1, ZC3H12D, ICK, CAPRIN2, SKOR1, PRRX2, CDK20, MIPOL1, PLK3, KDM1B, POU6F2, CNTFR, COL3A1, KLF6, COPS3, PREX2, KDM4A, ZRSR2, MED29, FAT4, FAT3, U2AF2, FANCM, KEAP1, WAPL, CARM1, CREB1, CREBBP, CREM, CRHR1, CRK, CRKL, VKORC1, CREB3L2, ASXL2, E2F7, ZBTB5, SLX4, WWTR1, HES4, CEBPZ, CDK12, KMT5B, ASCL4, CSF1, VGLL3, CSF1R, CSF2RA, CSF2RB, CSF3R, CSK, CSNK1D, CSNK1E, ZNF521, ESCO1, EHMT1, SMC3, TENT5C, FZR1, MLST8, YEATS4, G6PC3, NKX2-5, HDGFL3, HNRNPA3, DOT1L, BABAM1, CTLA4, INTS12, SGO1, CTNNA1, CTNNA2, SP140L, CTNNA3, CTNNB1, CTNND1, CTSD, CTSL, CTSS, KDM4D, CUL3, CUL4A, CUL4B, PRMT7, SETD5, FANCI, CUX1, SLC47A1, BCORL1, MAMLD1, CHD9, USB1, ZNF668, ABRAXAS1, CYLD, KDM8, ZNF750, ZNF703, CYP17A1, TET2, CYP21A2, SDHAF2, TMEM127, ARHGAP10, SETD6, PALB2, CRTC3, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, ZC3H12A, CYP2J2, CYP3A4, CYP3A5, IKBIP, SLC47A2, CYP4F2, DACH1, DAXX, AMER1, DBH, PARP1, DCC, PARP4, DDB2, PARP2, ESCO2, DDIT3, DDR1, CRTC2, DDR2, FLCN, DDX3X, DDX5, DDX6, DEK, ALKBH6, TET3, KMT5C, GID4, TMEM43, GLIS3, RSPO2, DHFR, RICTOR, DHH, DIAPH1, DIAPH2, NIPBL, VTCN1, DKC1, JAZF1, NUP93, TRIM66, SETD1A, KDM6B, KDM1A, PDS5A, SMCHD1, KDM4B, MAU2, PHLPP2, SETD1B, ATAD2B, TAOK1, ASXL3, DMXL1, GLIS2, TET1, KMT5A, APH1A, GLIS1, TBL1XR1, SPIC, SH2B3, MTDH, MDS2, DNM2, DNMT1, DNMT3A, DNMT3B, MAP3K21, DNMT3L, MOB1B, NFKBIZ, MRTFB, CADM2, NRG4, SHC2, DOCK2, NUTM1, TENM2, JADE1, PBRM1, PSENEN, DPYD, ATAD2, PRMT3, SLC26A3, CRBN, DRD1, DRD2, RPTOR, DSC2, SETD7, DSG2, DSP, HBEGF, PDGFD, TSHZ3, TRAF3IP3, TRIB2, SGO2, DVL1, DVL2, DVL3, DYRK2, SPRED3, E2F1, E2F3, E2F5, E2F6, EBF1, MAP3K15, NOTCH2NLA, EED, EGF, EGFR, EGR1, EGR2, EHF, EIF1AX, NKX2-6, ELANE, ELF1, ELF3, ELF4, ELF5, ELK1, ELK3, ELK4, PEAR1, EP300, EPHA1, EPHA2, EPHA3, EPHA4, EPHA5, EPHA7, EPHA8, EPHB1, EPHB2, EPHB3, EPHB4, EPHB6, EPOR, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EREG, ERF, ERG, ESR2, ESRRA, AHR, ETS1, ETS2, ETV1, ETV2, ETV3, ETV4, ETV5, ETV6, MECOM, EWSR1, EXT1, EXT2, EXTL1, EZH1, EZH2, FADD, AIP, BPTF, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FAT1, FAT2, FBN1, FEN1, FER, FES, FGF1, FGF10, FGF11, FGF12, FGF13, FGF14, FGF16, FGF17, FGF18, FGF19, FGF2, FGF20, FGF21, FGF22, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FGR, FH, FHIT, VEGFD, FKBP5, FKBP9, FLG, FLI1, FLT1, FLT3, FLT3LG, FLT4, AFF2, FOLH1, AKAP9, FOS, FOSB, FOSL2, FOXG1, FOXL1, FOXM1, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, FRK, FSHR, ABCB1, FUBP1, FUS, KDSR, FYN, G6PD, GAB1, GABPA, GATA1, GATA2, GATA3, GATA6, ABCB11, KAT2A, GDNF, GFI1, GFI1B, GGCX, GHR, ALK, GLA, ALOX12B, GLI1, GLI2, GLI3, ALOX5, GNA11, GNA13, GNAQ, GNAS, GNRHR, GOT1, GPC3, GPC5, ABCB4, LGR5, GRK4, GRK5, GPS2, GRB10, GRB2, GRB7, GRIN2A, ARHGAP35, GRM3, GRM8, GSK3A, GSK3B, GSTT1, GUCY1A2, HIST1H1E, H3F3A, HIST1H4E, HCK, HDAC1, HDAC2, HDAC3, HDGF, HELLS, HEY1, HEY2, HGF, CASC11, HIF1A, HLA-A, RIPK4, HLF, MNX1, HMGA2, HMGA1, FOXA1, FOXA2, FOXA3, TLX1, TLX2, ABCC1, HOXA10, HOXA11, HOXA13, HOXA3, HOXA9, HOXB13, HOXB3, HOXC10, HOXC11, HOXC13, HOXD10, HOXD11, HOXD13, HOXD3, HOXD4, HR, HRAS, PRMT2, PRMT1, PRMT8, HES1, HSD11B2, HSD3B1, HSP90AA1, HSP90AB1, KAT5, HTR1A, HTR2A, ABCC2, NOD2, ICOS, ID1, ID2, ID3, ID4, IDH1, IDH2, SP110, IGF1, IGF1R, IGF2, IGF2R, RBPJ, APC, APEX1, BIRC2, BIRC3, XIAP, BIRC5, IHH, ELP1, IKBKB, IL10RA, IL10RB, IL11RA, IL12RB1, IL12RB2, IL13RA1, IL15RA, IL17RA, IL18R1, IL18RAP, IL1R1, IL1R2, IL1RAP, IL20RA, IL20RB, IL21R, IL2RA, IL2RB, IL2RG, IL3, IL3RA, IL4R, IL5RA, IL6R, IL6ST, IL7R, IL9R, ING1, INHBA, INPP4B, INSR, INSRR, FOXP3, IQGAP1, IQGAP2, IRAK1, IRF4, IRF5, IRF6, IRS2, IRS4, ITK, ITPKB, JAK1, JAK2, JAK3, JARID2, JUN, JUNB, JUND, JUP, KCNH2, KCNJ5, KCNQ1, KDR, KEL, KHSRP, KIT, KITLG, KLF12, KLF4, KLF5, KLF8, KRAS, MAFB, AR, ARAF, AFF3, AREG, LATS1, LATS2, LCK, LDB1, LDLR, LEPR, LHCGR, LIFR, ARFRP1, LMNA, LMO1, LMO2, LMO7, RHOA, LPP, RHOB, LRP1B, LRP5, LRP6, LTK, LYL1, LYN, LZTR1, MXD1, MAD1L1, MAD2L1, MAD2L2, SMAD1, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD7, SMAD9, MAF, MAGED1, MAK, MALT1, MAOA, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K10, MAP3K11, MAP3K12, MAP3K13, MAP3K14, MAP3K2, MAP3K3, MAP3K4, MAP3K5, MAP3K6, MAP3K7, RHOH, MAP3K8, MAP3K9, MAP4, MAP4K1, MAP4K2, MAP4K3, MAP4K4, MAP4K5, DIRAS3, MAPK1, MAPK10, MAPK11, MAPK12, MAPK13, MAPK14, MAPK3, MAPK4, MAPK6, MAPK7, MAPK8, MAPK9, MATK, PHOX2A, MAX, MBD1, MBD3, MC1R, MCL1, MCPH1, MDM2, MDM4, MEF2B, ARNT, MEN1, MERTK, MET, ARPC1A, ARPC1B, MGMT, CIITA, MID1, MITF, MLF1, MLH1, MLH3, KMT2D, MLLT1, AFF1, MLLT3, MLLT6, FOXO4, MN1, MOS, MPG, MPL, MRE11, ARTN, ABCG1, MSH2, MSH3, MSH4, MSH6, ASCL1, MST1, MST1R, ASCL2, ABCG2, ASCL3, MTAP, MTCP1, ASH2L, MUSK, MUTYH, MYB, MYBL1, MYBL2, MYBPC3, MYC, MYCL, MYCN, MYD88, MYH11, MYH7, MYL2, MYL3, MYLK, ABL1, MYOD1, NAB1, NAB2, NAT2, NBN, NCK1, NCK2, NCOA1, NCOA2, NCOA3, NCOA4, NCOR1, NCOR2, NDRG1, ABL2, NEK1, NEK2, NEK3, NEK5, NEK6, NF1, ZFHX3, NF2, NFATC1, NFATC2, NFATC3, NFATC4, NFE2L2, NFIA, NFIB, NFIC, NFIX, NFKB1, NFKB2, NFKBIA, NFKBIB, NFKBIE, NGF, ATF1, NKX2-2, NKX2-3, NKX2-4, NKX3-1, NONO, CNOT3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NPPB, NPR1, ATM, NR0B1, NR3C1, NR3C2, NR4A1, NR4A2, NR4A3, NRAS, NRG1, NRG2, NRG3, NRIP1, NRTN, NT5C2, NTF3, NTF4, NTRK1, NTRK2, NTRK3, NUMB, NUMBL, NUP214, NUP98, ODC1, OSMR, PAK1, PAK2, PAK3, PRKN, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PAXIP1, PBX1, PBX2, PBX3, KAT2B, PCBP1, CDK16, CDK17, CDK18, PDCD1, PDGFA, PDGFB, PDGFC, PDGFRA, PDGFRB, PDK1, PDPK1, ATR, PEG3, ATRX, CDK14, PGF, PGR, PHB, PHF1, PHF2, PIK3C2A, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R4, PIM1, PIM2, PKHD1, PKP2, AXIN1, PLA2G2A, AXIN2, PLAG1, PLAGL1, PLAGL2, AXL, PLCG1, PLCG2, PLK1, PMAIP1, PML, PMS1, PMS2, B2M, PRRX1, PHOX2B, POLD1, POLE, POR, POU2AF1, POU2F2, POU5F1, POU5F1B, POU6F1, PPARD, PPARG, PPFIA1, PPM1D, PPP2R1A, PPP2R1B, PPP2R2B, PPP6C, PRCC, PRDM1, PRDM2, PRDM4, PRDM5, BACH1, PRDM6, PRDM7, PRF1, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRKAR1B, ZMYND8, OLIG2, BAG4, PRKCI, PRKD1, PRKDC, PRLR, ADGRB3, PRSS1, PRSS3, PRSS8, BAP1, PSEN1, PSEN2, NKX3-2, BARD1, PSIP1, PSPN, PTCH1, PTCH2, PTEN, BAX, BAZ1A, PTGIS, PTGS1, PTGS2, BAZ1B, PTK2, PTK2B, PTK6, PTK7, BAZ2A, BAZ2B, PTPN11, PTPN2, PTPN21, PTPN6, PTPRB, PTPRC, PTPRD, PTPRF, PTPRG, PTPRJ, PTPRK, PTPRM, PTPRQ, PTPRR, PTPRT, PTTG1, PVT1, BCAR3, RAC1, RAC2, RAD21, RAD50, RAD51, RAD51C, RAD51B, RAD51D, RAD52, RAD54L, RAF1, RAP1GDS1, RARA, RARB, RARG, RASA1, RB1, KDM5A, BCL10, RBM10, BCL2A1, RBMX, BCL2L1, BCL2L11, RECQL4, BCL2L2, REL, RELA, RELB, RET, BCL3 Specificity 1 % Genes 100 %

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