205 genes and genomic entities tagged
“SV/CNV”
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205 genes and genomic entities
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- ABCC6
- ADGRG1
- AFDN
- AFF2
- AGAP1
- AGPAT2
- AKT3
- AMELX
- ANAPC7
- ARHGEF9
- ATAD3A
- ATP6V0C
- AUTS2
- AVPR2
- BMP4
- BRD4
- C4A
- C4B
- CA5A
- CACNA1F
- CAMTA1
- CATSPER2
- CCM2
- CDHR1
- CFHR1
- CFHR2
- CFHR3
- CFHR5
- CHST11
- CLCNKB
- CLN3
- CNGB3
- CPEB1
- CSTB
- CTNS
- CTSB
- CYP19A1
- CYP21A2
- DIAPH2
- DIS3L2
- DLG2
- DMD
- DNAAF4
- DOCK8
- DPP6
- DPYD
- DRC1
- DSTYK
- DUX4
- DYNC1I1
- DYRK1A
- EHMT1
- EN1
- EPHA7
- ERBB4
- F8
- FECH
- FGF8
- FHOD3
- FKTN
- FMN1
- FXN
- GGT1
- GJB6
- GK
- GNAS-AS1
- GPC6
- GPHN
- GREM1
- GRHL2
- GRID2
- HBA1
- HBA2
- HBB
- HCCS
- HDAC4
- HMGA2
- HMGCL
- HMX1
- HNF1B
- ICOS
- IHH
- IKBKG
- IRAK1
- IRX5
- IRX6
- ISCA-37390-Loss
- ISCA-37392-Gain
- ISCA-37392-Loss
- ISCA-37393-Gain
- ISCA-37394-Loss
- ISCA-37396-Loss
- ISCA-37397-Gain
- ISCA-37397-Loss
- ISCA-37400-Gain
- ISCA-37400-Loss
- ISCA-37401-Loss
- ISCA-37404-Gain
- ISCA-37404-Loss
- ISCA-37405-Loss
- ISCA-37406-Loss
- ISCA-37408-Loss
- ISCA-37411-Loss
- ISCA-37415-Gain
- ISCA-37415-Loss
- ISCA-37420-Loss
- ISCA-37421-Gain
- ISCA-37421-Loss
- ISCA-37423-Gain
- ISCA-37423-Loss
- ISCA-37424-Loss
- ISCA-37425-Gain
- ISCA-37425-Loss
- ISCA-37429-Loss
- ISCA-37430-Gain
- ISCA-37436-Loss
- ISCA-37442-Gain
- ISCA-37446-Loss
- ISCA-37468-Loss
- ISCA-37478-Gain
- ISCA-37478-Loss
- ISCA-37486-Loss
- ISCA-37493-Loss
- ISCA-46299-Gain
- ISCA_37418-Loss
- ISPD
- JARID2
- KANSL1
- KLC2
- LARGE1
- LARS2
- LDHA
- LINC01578
- LMBR1
- LMNB1
- MARS2
- MBD5
- MCOLN1
- MEF2C
- MIR17HG
- MKRN3
- MYADML2
- MYT1L
- NF2
- NFIB
- NMNAT1
- NPHP1
- NR0B1
- NSD1
- OCA2
- OPN1LW
- OPN1MW
- OTOA
- PAFAH1B1
- PDLIM3
- PGRMC1
- PIGL
- PIGN
- PLAU
- PLCB1
- PMP22
- PRDM13
- PRDM16
- PREPL
- PRPF31
- PRSS1
- RAPSN
- RBM8A
- RPL35A
- RREB1
- RUNX2
- SACS
- SEPT9
- SH3KBP1
- SHANK3
- SHOX
- SMN1
- SNCA
- SNRPN
- SOST
- SOX3
- SOX5
- STRC
- STS
- STX16
- TAB2
- TANGO2
- TAPBP
- TBX1
- TP63
- TRAPPC9
- TSC1
- TUSC3
- TWIST1
- TXNL4A
- UBE2T
- UBE3A
- USP9Y
- VCAN
- WWOX
- XYLT1
- YWHAE
- ZEB1
- ZEB2
- ZFHX4
Tagged
- 5'UTR
- acadm
- adult-onset
- adult onset neurodegenerative
- cancer
- cardiac
- clinical trial
- cnv
- deafness
- deep intronic
- dermatological
- digenic
- disputed
- endocrine
- for reivew
- for review
- founder
- gastrointestinal
- GI
- haematological
- immunological
- liver
- Medicare
- metabolic
- mtDNA
- neurological
- new gene name
- ophthalmological
- paediatric-onset
- pharmacogenomic
- refuted
- renal
- respiratory
- review
- skeletal
- som
- somatic
- STR
- SV/CNV
- technically challenging
- treatable
- treatment
- umccr
- UTR
- vascular