Source: INFERRED

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: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
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: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 7 14 2001 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1