Annotation Detail
Information
- Associated Genes
- ADCY1 ADCYAP1R1 AEBP1 AHR AMPH AOAH AQP1 BLVRA CAMK2B SEPTIN7 CHN2 CRHR2 DGKB DDC GSDME ETV1 EVX1 GARS1 GCK GHRHR GLI3 GRB10 HNRNPA2B1 HOXA1 HOXA2 HOXA3 HOXA4 HOXA5 HOXA6 HOXA7 HOXA9 HOXA10 HOXA11 HOXA13 HUS1 IGFBP1 IGFBP3 IL6 INHBA ITGB8 MEOX2 NPY OGDH PDE1C PGAM2 POLD2 PPIA PSMA2 PURB RALA RP9 SFRP4 SP4 TWIST1 UPP1 CDK13 DNAH11 TAX1BP1 SKAP2 TBRG4 STK17A CREB5 NFE2L3 PHF14 HDAC9 RAPGEF5 SCRN1 ELMO1 TRIL ARL4A RAMP3 IKZF1 NOD1 GPNMB AGR2 IGF2BP3 YKT6 PPP1R17 ZPBP NUP42 HIBADH INMT POU6F2 FKBP9 CBX3 HECW1 AVL9 NACAD SNX13 COBL DPY19L1 MATCAP2 NUDCD3 LSM5 SOSTDC1 KBTBD2 OSBPL3 VPS41 TSPAN13 BBS9 POLM BZW2 DBNL NPC1L1 SNX10 TRA2A NT5C3A NME8 UBE2D4 PALS2 CYCS ANLN CPVL TOMM7 DDX56 TMEM106B EPDR1 FKBP14 CDCA7L URGCP COA1 KLHL7 STK31 YAE1 ANKMY2 TBX20 MYL7 NEUROD6 FIGNL1 MYO1G NPVF HERPUD2 TNS3 MRPS24 MRPL32 GGCT C7orf25 SUGCT PKD1L1-AS1 EEPD1 CCM2 ZMIZ2 STARD3NL MINDY4 HYCC1 PLEKHA8 SCIN CCDC126 H2AZ2 MALSU1 C7orf57 MPLKIP SPMIP4 ABCA13 AGR3 PKD1L1 BMPER VWDE PRPS1L1 POLR1F SP8 HOXA11-AS JAZF1 THSD7A TMED4 MTURN PRR15 FERD3L ITPRID1 ZNRF2 TMEM196 STEAP1B SUN3 LINC02860 SPDYE1 SNHG15 ABCB5 FAM221A MACC1 GPR141 VWC2 NPSR1 AGMO LINC02902 NPSR1-AS1 MIR148A MIR196B TARP IL6-AS1 WIPF3 SNORA5C CRPPA HECW1-IT1 SPMIP7 HOTTIP LRRC72 HOTAIRM1 KLHL7-DT
- Associated Variants
- GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 AND See cases
- ClinVar Allele ID
- 435203
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-06-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000512091
- Observed Origin Sample
- not provided
Drugs