Annotation Detail
Information
- Associated Genes
- ABR ACADVL ALOX12 ALOX12B ALOX15 ALOX15B ARRB2 ASGR1 ASGR2 ASPA ATP1B2 ATP2A3 C1QBP CD68 CHD3 CHRNB1 CHRNE COX10 CLDN7 CRK CTNS DLG4 DNAH9 DPH1 DVL2 EFNB3 EIF4A1 EIF5A ENO3 FGF11 GP1BA GPS2 GUCY2D HIC1 ITGAE MNT MYH1 MYH2 MYH3 MYH4 MYH8 MYH10 MYO1C NUP88 OR1D2 OR3A1 OR3A2 P2RX1 P2RX5 PAFAH1B1 SERPINF1 PER1 PFAS PFN1 PITPNA PLD2 SERPINF2 POLR2A PSMB6 RCVRN RPA1 RPL26 SCO1 MAP2K4 SHBG SLC2A4 SOX15 VAMP2 TP53 TRG-GCC2-6 TRK-TTT3-5 TRL-TAG1-1 TRQ-CTG1-5 TRR-TCT2-1 UBE2G1 TRPV1 YWHAE ZNF18 ZNF232 OR1A1 OR1D5 OR1E1 OR1E2 OR1G1 OR3A3 SLC25A11 DOC2B GAS7 SCARF1 TNK1 MYH13 TNFSF13 TNFSF12 TM4SF5 USP6 RABEP1 KCNAB3 AURKB GLP2R NTN1 STX8 RPH3AL FXR2 MPDU1 SPAG7 ACAP1 KIAA0753 SGSM2 ARHGAP44 HS3ST3B1 HS3ST3A1 CLEC10A MYBBP1A PRPF8 KIF1C GABARAP NLRP1 ARHGEF15 RAP1GAP2 CAMTA2 KDM6B ZZEF1 CLUH SMG6 WSCD1 CTDNEP1 PIK3R5 ELP5 SHPK AIPL1 RNF167 SENP3 OR1A2 PELP1 RANGRF TIMM22 TAX1BP3 MINK1 GEMIN4 MED31 DERL2 GLOD4 YBX2 ANKFY1 INPP5K PIMREG XAF1 BORCS6 SLC52A1 WRAP53 MRM3 VPS53 NCBP3 TSR1 DHX33 ADPRM PLSCR3 NLGN2 ZBTB4 CXCL16 TRAPPC1 ALOXE3 ELAC2 SRR NXN MIS12 METTL16 PHF23 TLCD3A CTC1 NDEL1 PITPNM3 EMC6 RILP TEKT1 HASPIN ZMYND15 CAMKK1 RPAIN TMEM107 NAA38 NEURL4 ZNF594 HES7 SPATA22 TXNDC17 TMEM88 MYOCD SAT2 SMYD4 CNTROB CYB5D1 OVCA2 USP43 KRBA2 SLC43A2 CYB5D2 C17orf49 ZFP3 GGT6 SPNS2 WDR81 DNAH2 RTN4RL1 CDRT15 CFAP52 CCDC42 PIK3R6 ODF4 KCTD11 MFSD6L TRPV3 SLC16A11 FBXO39 DHRS7C SLC16A13 SPEM2 SPNS3 TMEM256 BCL6B VMO1 SLC13A5 TMEM102 TRARG1 TMEM95 SMTNL2 RFLNB SPEM1 GLTPD2 INCA1 SCIMP C17orf100 SPDYE4 TMEM220 SHISA6 SLC25A35 LIAT1 MED11 MIR132 MIR195 MIR212 MIR22 TNFSF12-TNFSF13 RNASEK SLC35G6 RNF222 PIRT BHLHA9 TLCD2 C17orf107 LOC100288728 MIR497HG
- Associated Variants
- GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 AND See cases
- ClinVar Allele ID
- 437321
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-11-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000511786
- Observed Origin Sample
- not provided
Drugs