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Genes and Genomic Entities
paediatric-onset
36 genes and genomic entities tagged
“paediatric-onset”
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Gene or Genomic Entity Name
Enter a gene symbol, STR name, Region name, or the beginning of one, eg “CD” or “CD19”
36 genes and genomic entities
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Genes
STRS
Regions
AFF2_FRAXE_GCC
AFF3_FRA2A_CGG
ARX_EIEE1_GCN1
ARX_EIEE1_GCN2
ATN1_DRPLA_CAG
ATXN2_SCA2_CAG
ATXN3_SCA3_CAG
C11orf80_FRA11A_CGG
CBL_FRA11B_CCG
COMP_MEDPSACH_GAC
CSTB_EPM1_CCCCGCCCCGCG
DIP2B_FRA12A_CGG
DMD_DMD_GAA
DMPK_DM1_CTG
EIF4A3_RCPS_complex
FMR1_FXS_CGG
FOXL2_BPES_GCN
FXN_FRDA_GAA
GLS_GDPAG_GCA
HOXA13_HFGS_GCN1
HOXA13_HFGS_GCN2
HOXA13_HFGS_GCN3
HOXD13_SPD1_GCG
PHOX2B_CCHS_GCN
PPP2R2B_SCA12_CAG
PRDM12_HSAN8_GCC
RUNX2_CCD_GCN
SOX3_PHPX_GCN
TBP_SCA17_CAG
TBX1_TOF_GCN
TMEM185A_FRAXF_GCC
VWA1_HMNMYO_GCGCGGAGCG
XYLT1_DBQD2_GGC
ZIC2_HPE5_GCN
ZIC3_VACTERLX_GCC
ZNF713_FRA7A_CGG
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
non-coding gene
ophthalmological
paediatric-onset
pharmacogenomic
refuted
renal
respiratory
review
skeletal
som
somatic
STR
SV/CNV
technically challenging
treatable
treatment
umccr
UTR
vascular