440 genes and genomic entities tagged
“curated_removed”
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440 genes and genomic entities
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- A4GALT
- AARS2
- ABCC6
- ABCC8
- ACADM
- ACE
- ACP5
- ACTRT1
- AGPAT2
- AGTR2
- AHI1
- AKAP10
- AKAP9
- AKT2
- ALDOB
- ALMS1
- ANIB1
- ANKS6
- APC
- AQP1
- AQP2
- AQP4
- ARL13B
- ARL6
- ATD
- ATRX
- ATXN10
- ATXN1_CAG
- ATXN2_CAG
- ATXN3_CAG
- ATXN7_CAG
- AVP
- AVPR2
- B3GALT1
- B9D2
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BLK
- BLM
- BMPR1B
- BMPR1B-AS1
- BPIFB6
- BRAF
- BRF2
- BSCL2
- BTK
- C1orf94
- C2CD3
- C5orf42
- C8orf37
- C9orf72_GGGGCC
- CANT1
- CAV3
- CAVIN1
- CC2D2A
- CCDC28B
- CDK4
- CDKN1C
- CDKN2A
- CEL
- CENPF
- CEP104
- CEP120
- CEP164
- CEP290
- CEP41
- CEP83
- CFTR
- CHST14
- CHST3
- CIB1
- COL11A1
- COL11A2
- COL2A1
- COL5A1
- COL9A1
- COL9A2
- COL9A3
- COMP
- COX7B
- CSPP1
- CSTB_CCCCGCCCCGCG
- CTNNA3
- CTNNB1
- CTSF
- CTSK
- CUL7
- DDR2
- DDX59
- DHCR24
- DHCR7
- DLST
- DMXL2
- DNAJC30
- DST
- DWS
- DYM
- DYNC2H1
- DYNC2LI1
- EFNB1
- EIF2AK3
- ENPP1
- EP300
- EPHB4
- ERCC6
- ERCC8
- EVC
- EVC2
- EVR3
- EXT1
- EXT2
- FAM20C
- FBN1
- FBXO25
- FECH
- FEV
- FGD1
- FGF23
- FGF5
- FGFR1
- FGFR2
- FGFR3
- FLNA
- FLNB
- FMR1_CGG
- FOXC2
- FOXN1
- FOXP3
- FSHMD1A
- FXN_GAA
- GALNT3
- GATA4
- GATA6
- GCK
- GDF5
- GGCX
- GH1
- GHRHR
- GHSR
- GJA1
- GJB2
- GLA
- GLI2
- GLI3
- GLIS3
- GNA11
- GNAQ
- GPC6
- GTF3AP5
- HAMP
- HCCS
- HESX1
- HFE
- HFE2
- HNF1A
- HNF1B
- HNF4A
- HPE1
- HPLH1
- HRAS
- HSPG2
- HTT_CAG
- HYLS1
- ICK
- IER3IP1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT52
- IFT74
- IFT80
- IGF1
- IGF1R
- IHH
- IL10
- IL1RN
- IL2RA
- IL6
- INPP5E
- INS
- INSR
- INVS
- IQCB1
- IRF4
- ISCA-37404-Gain
- ISCA-37404-Loss
- ISCA-37433-Gain
- ISCA-37433-Loss
- ISCA-37468-Loss
- ISCA-37478-Gain
- JAK2
- JKAMP
- KANSL1-AS1
- KAT6A
- KCNJ11
- KDM6A
- KIAA0586
- KIF22
- KIF7
- KLF11
- KMT2D
- KPNA3
- KRAS
- KRT17
- LBX1
- LEF1
- LGI1
- LHX3
- LIFR
- LIPC
- LMNA
- LRBA
- LZTFL1
- MAPKBP1
- MC1R
- MCDR3
- MDH2
- MED12
- MKKS
- MKS1
- MLH1
- MMP13
- MMP9
- MNX1
- MSH2
- MSH6
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND4L
- MT-ND5
- MT-ND6
- MT-RNR1
- MT-RNR2
- MT-TA
- MT-TC
- MT-TD
- MT-TE
- MT-TF
- MT-TG
- MT-TH
- MT-TI
- MT-TK
- MT-TL1
- MT-TL2
- MT-TM
- MT-TN
- MT-TP
- MT-TQ
- MT-TR
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MT-TY
- MTMR14
- MYLK2
- MYMY1
- MYMY3
- MYO1A
- MYOC
- NBN
- NDUFB11
- NEK1
- NEK8
- NEUROD1
- NEUROG3
- NF1
- NIPBL
- NKX2-2
- NKX2-5
- NKX3-2
- NLRP5
- NOD2
- NOP56_GGCCTGTT
- NPHP1
- NPHP3
- NPHP4
- NPR2
- NR5A1
- NRAS
- NSMCE2
- OBSL1
- OCA5
- OFD1
- OPA2
- OPA4
- OPA5
- OPA6
- OPA8
- PAPSS2
- PAX4
- PCNT
- PCYT1A
- PDE1B
- PDX1
- PIK3CA
- PITX2
- PKD2
- PLAA
- PMS2
- PMVK
- POC1A
- PORCN
- POU1F1
- PPARG
- PPOX
- PPP1R3A
- PPP2R2B_CAG
- PRKAR1A
- PROP1
- PROSC
- PSMB8
- PTCH1
- PTCH2
- PTEN
- PTF1A
- PTH1R
- PTPN11
- RAF1
- RAP1GDS1
- RFX6
- ROR2
- RPGRIP1L
- RPS6KA3
- RUNX2
- RYR2
- SAMD9
- SASH1
- SCLT1
- SCN4B
- SDCCAG8
- SERPINA1
- SH2B3
- SH3PXD2B
- SHOX2
- SLC19A2
- SLC24A1
- SLC25A11
- SLC25A4
- SLC26A2
- SLC2A2
- SLC35D1
- SLC39A13
- SLC40A1
- SMAD4
- SMARCAL1
- SMC1A
- SMC3
- SOS1
- SOX2
- SOX3
- SOX9
- SPG14
- SPG16
- SPG19
- SPG23
- SPG24
- SPG25
- SPG27
- SPG29
- SPG32
- SPG34
- SPG36
- SPG37
- SPG38
- SPG41
- SPINK1
- SRCAP
- STAT1
- STAT3
- STAT5B
- STK11
- STRTS
- SUFU
- SULF1
- TBCE
- TCF12
- TCTEX1D2
- TCTN1
- TCTN2
- TCTN3
- TERT
- TFR2
- TGFBR1
- THRB
- TMC6
- TMC8
- TMEM107
- TMEM138
- TMEM216
- TMEM231
- TMEM237
- TMEM67
- TMPO
- TRAF3IP1
- TRIM32
- TRIM37
- TRIP11
- TRPS1
- TRPV4
- TSC1
- TSC2
- TTC21B
- TTC8
- TWIST2
- TXNDC15
- TYR
- TYRP1
- UGT1A1
- VDR
- VPS50
- WDPCP
- WDR19
- WDR34
- WDR35
- WFS1
- WNT5A
- WRN
- ZFP57
- ZIC1
- ZMYND15
- ZNF599
- ZNF865
Tagged
- adult-onset
- age-specific-variation
- Autism Spectrum Disorder
- chimeric-gene
- cnv
- condition_removed
- curated_removed
- curated-removed
- curated-variant-list
- currently-ngs-unreportable
- currently-not-available-via-GLH-non-WGS-testing
- dd_review
- deletions
- de novo
- digenic
- disputed
- dominant-negative
- drug-dosing
- drug-toxicity
- early-onset
- ensembl_ids_known_missing
- for-review
- founder-effect
- gene
- gene-c
- gene-checked
- gene-duplication
- gene-therapy-trial
- internal_inclusion_list_only
- loc
- locus-type-immunoglobulin-gene
- locus-type-phenotype-only
- locus-type-pseudogene
- locus-type-rna-long-non-coding
- locus-type-rna-micro
- locus-type-rna-misc
- locus-type-rna-ribosomal
- locus-type-rna-small-nuclear
- locus-type-rna-transfer
- locus-type-rna-vault
- locus-type-small-nucleolar
- locus-type-T-cell-receptor-gene
- locus-type-unknown
- microdeletion
- microduplication
- missense
- monogenic-polygenic
- mosaicism
- multifactorial
- nested STR
- new
- new-gene-name
- ngs-false-positive-region
- NGS Not Validated
- non-coding-known-pathogenic
- nucleotide-repeat-expansion
- pathogenic-synonymous
- pharmacogenetics
- polygenic
- prognosis
- promoter
- Pseudoautosomal region 1
- Pseudoautosomal region 2
- Q1_25_ demote_red
- Q1_25_ expert_review
- Q1_25_ MOI
- Q1_25_ NHS_review
- Q1_25_ promote_green
- Q1_26_demote_amber
- Q1_26_demote_red
- Q1_26_expert_review
- Q1_26_MOI
- Q1_26_NHS_review
- Q1_26_promote_green
- Q2_25_ demote_amber
- Q2_25_ demote_red
- Q2_25_expert_review
- Q2_25_ MOI
- Q2_25_ NHS_review
- Q2_25_ phenotype
- Q2_25_ promote_green
- Q2_26_demote_amber
- Q2_26_demote_red
- Q2_26_expert_review
- Q2_26_MOI
- Q2_26_NHS_review
- Q2_26_promote_green
- Q3_24_demote_red
- Q3_24_expert_review
- Q3_24_MOI
- Q3_24_NHS_review
- Q3_24_promote_green
- Q3_25_demote_amber
- Q3_25_demote_red
- Q3_25_expert_review
- Q3_25_MOI
- Q3_25_NHS_review
- Q3_25_promote_green
- Q4_24_demote_red
- Q4_24_expert_review
- Q4_24_MOI
- Q4_24_NHS_review
- Q4_24_promote_green
- Q4_25_demote_amber
- Q4_25_demote_red
- Q4_25_expert_review
- Q4_25_MOI
- Q4_25_NHS_review
- Q4_25_promote_green
- recurrent-variant
- refuted
- regulatory-region
- Skewed X-inactivation
- somatic
- spec
- special_caller_only
- special_consideration
- STR
- structural-variant
- sva
- technical-limitations
- to_be_confirmed_NHSE
- treatabl
- treatable
- watchlist
- watchlist_moi
- x-linked-over-dominance
- y-chromosome