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: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 1.000 1 0 2014 2014
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.100 None 1.000 21 4 1994 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 1.000 2 0 2011 2012
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.020 None 0.500 2 0 1991 1997
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 0 0
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.230 None 1.000 4 0 2000 2017
Entrez Id: 9181
Gene Symbol: ARHGEF2
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2 0.502 0.769 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.030 None 1.000 3 0 2000 2010
Entrez Id: 6770
Gene Symbol: STAR
STAR
steroidogenic acute regulatory protein 0.513 0.808 8.8E-11
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.060 None 0.833 6 3 2009 2019
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
melanocortin 1 receptor 0.524 0.808 8.1E-11
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 1.000 1 0 2019 2019
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
Ras protein specific guanine nucleotide releasing factor 1 0.537 0.769 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.030 None 1.000 3 0 2000 2017
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 0 0
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
cytochrome P450 family 11 subfamily A member 1 0.547 0.731 5.5E-07
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.020 None 0.500 2 0 2015 2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 1.000 1 0 2018 2018
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
thioredoxin reductase 2 0.548 0.731 3.5E-11
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.040 None 0.750 4 0 2014 2019
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.800 definitive 0.935 31 12 1994 2017
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.100 None 0.935 31 4 1994 2019