Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
kinesin family member 15 0.617 0.654 9.5E-25
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
WD repeat domain 11 0.524 0.808 1.4E-08
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55599
Gene Symbol: RNPC3
RNPC3
RNA binding region (RNP1, RRM) containing 3 0.608 0.731 2.0E-04
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
misato mitochondrial distribution and morphology regulator 1 0.582 0.692 1.6E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 58524
Gene Symbol: DMRT3
DMRT3
doublesex and mab-3 related transcription factor 3 0.653 0.500 6.2E-06
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 6307
Gene Symbol: MSMO1
MSMO1
methylsterol monooxygenase 1 0.729 0.385 9.0E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 6237
Gene Symbol: RRAS
RRAS
RAS related 0.543 0.808 4.7E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0