Annotation Detail
Information
- Associated Genes
- ACTG2 ACYP2 ADD2 ADRA2B BIN1 ANXA4 ATP6V1B1 AUP1 BCYRN1 ZFP36L2 BUB1 CALM2 CAPG CCNT2 CD8A CD8B CNGA3 COX5B CTNNA2 DARS1 DBI DCTN1 DGUOK DNAH6 DOK1 DUSP2 EGR4 EMX1 EN1 EPAS1 ERCC3 FABP1 EFEMP1 FHL2 FSHR GFPT1 GGCX GLI2 GPR17 GPR39 MSH6 GYPC HK2 HNMT TLX2 FOXN2 IGKC IL1A IL1B IL1R1 IL1RN INHBB INPP4A AFF3 LCT LHCGR LIMS1 EPCAM MXD1 MAL MAT2A MCM6 MDH1 MEIS1 MGAT5 MSH2 MTIF2 MYO7B NPAS2 NPHP1 OTX1 REG3A PCBP1 PEX13 PIGF PLEK PLGLB1 POLR2D POU3F3 PPM1B PPP3R1 PRKCE PROC PTPN4 RAB1A RALB RANBP2 REL REG1A REG1B RPL31 RPS27A RTKN SCTR SFTPB SIX3 SLC1A4 SLC3A1 SLC8A1 SLC9A2 SLC20A1 SNRPG SPR SPTBN1 SULT1C2 TACR1 GCFC2 TGFA TIA1 TSN UGP2 VRK2 XPO1 ZAP70 ZNF2 ALMS1 MOGS RNF103 PAX8 IL1R2 MALL CXCR4 DYSF NCK2 DUSP11 VAMP8 MARCO SUCLG1 IL18RAP IL1RL2 IL18R1 ST3GAL5 DDX18 KYNU NAT8 COX7A2L TMSB10 IL1RL1 NRXN1 CIAO1 TGFBRAP1 HS6ST1 CRIPT MAP4K4 EIF2AK3 CHST10 PREPL GCC2 SOCS5 EIF5B USP34 SERTAD2 MRPL19 ZEB2 ARHGAP25 BCL2L11 ACTR3 ACTR2 ACTR1B LRPPRC TXNDC9 MPHOSPH10 SMYD5 C1D MERTK SEMA4F CCT7 CCT4 GNLY STAMBP TGOLN2 B3GNT2 USP39 SIX2 MAP3K2 VAMP5 MTHFD2 ARID5A PROKR1 EDAR GPR75 IMMT SNRNP27 GTF2A1L STON1 TBC1D8 RABL2A NXPH2 GPR45 MGAT4A AAK1 RAB3GAP1 RPIA SNRNP200 CEP68 UBXN4 PSME4 EXOC6B EHBP1 CLASP1 NCAPH RHOQ HAAO TMEM131 R3HDM1 PSD4 WBP1 VAX2 POLR1A CNRIP1 UNC50 RAB11FIP5 PTPN18 CNNM4 CNNM3 IL36RN IL36B IL37 IL36A SULT1C4 NFU1 ERLEC1 BMP10 ZNF638 HTRA2 EML4 LGALSL LINC03124 TFCP2L1 KCNIP3 CD207 ARHGEF4 TPRKB FAHD2A WDPCP ASB3 INSIG2 ANKRD39 FAM178B RNF181 MRPL30 KRCC1 MRPL35 PCYOX1 REV1 NAT8B VPS54 LIPT1 DYNC2LI1 CHMP3 BCL11A LRP1B ETAA1 CCDC93 AFTPH RETSAT SEMA4C C2orf42 PTCD3 PLEKHB2 FANCL SRBD1 MOB1A STEAP3 THNSL2 ACOXL WDR33 CNOT11 NAGK SMPD4 TMEM127 IWS1 LIMS2 KANSL3 CCDC88A KDM3A ARHGAP15 CFC1 GKN1 IL36G CYP26B1 POLE4 KCNK12 UGGT1 KCMF1 PNO1 STARD7 RTN4 PELI1 TTC7A PPP4R3B MTA3 DPP10 EPB41L5 ANKRD36B SLC4A5 SLC5A7 THADA ABCG5 ABCG8 GMCL1 TTC31 ANAPC1 RMND5A PAPOLG MRPS9 MRPS5 REEP1 SOWAHC PDCL3 C2orf49 TMEM185B SAP130 GTDC1 CAMKMT ANKRD53 LRRTM4 MZT2B MAP3K19 UXS1 FBXO11 SLC35F5 TSGA10 THSD7B TMEM177 LMAN2L TMEM163 TCF7L1 INO80B AMMECR1L WDR54 ZRANB3 RAB6C FAM161A EVA1A ANTXR1 POLR1B ELMOD3 RGPD5 CHCHD5 PRADC1 CCDC115 NIFK ECRG4 ZC3H8 SANBR ST6GAL2 IL1F10 MCEE LOXL3 PCGF1 MFSD9 SFT2D3 CCDC142 ZNF514 FAM136A TMEM87B ATOH8 LBX2 PNPT1 FER1L5 MCFD2 ATP6V1E2 CCDC74A CCDC74B PKDCC IMP4 SFXN5 LIMS3 TUBA3E CFAP36 TEX261 TUBA3D CCDC85A DNAAF10 LYPD1 MRPL53 PPP1R21 TRABD2A TMEM150A NMS LYG1 MITD1 CNTNAP5 FBLN7 C2orf73 TRIM43 ACMSD FAM168B REG3G CLHC1 PLEKHH2 C2orf76 TMEM182 M1AP TMEM37 TTL CKAP2L ZNG1B TEKT4 SMYD1 C2orf15 COMMD1 PROM2 FBXO41 GPAT2 ITPRIPL1 PUS10 SEPTIN10 FAHD2B ASPRV1 LONRF2 CCDC138 OXER1 C1QL2 CLEC4F DQX1 KCNG3 FOXD4L1 VWA3B CREG2 TET3 GKN2 SPMIP9 ANKRD23 APLF TMEM17 SPRED2 AMER3 LYG2 SH2D6 NT5DC4 RNF149 STPG4 RGPD4 STON1-GTF2A1L SPOPL CYP27C1 C2orf74 CRACDL FIGLA NOTO NCKAP5 FOXI3 GPR148 LRRTM1 ANKRD36 ZC3H6 TMEM247 TSPYL6 C2orf78 BOLA3 C2orf81 C2orf68 SLC9A4 LINC02898 EML6 PAIP2B RGPD1 ANKRD36C MIR128-1 MIR216A MIR217 CDRT15P3 ASTL SULT1C3 POTEE COA5 CHAC2 FBXO48 MSH2-OT1 ZNF285CP TRIM43B POTEI CFC1B RGPD3 POTEJ MZT2A RGPD8 POTEF LINC01873 RGPD6 RGPD2 RFX8 RNU4ATAC LIMS4 GPR75-ASB3 RNF103-CHMP3
- Associated Variants
- Single allele AND not provided
- Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- Single allele AND not provided
- ClinVar Allele ID
- 514837
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-02-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000714264
- ClinVar Disease
- not provided
- Observed Origin Sample
- de novo
Drugs