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: 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 30 1 1994 2017
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 3 0 2000 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
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: 56246
Gene Symbol: MRAP
MRAP
melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.080 None 1.000 8 0 2006 2019
Entrez Id: 23530
Gene Symbol: NNT
NNT
nicotinamide nucleotide transhydrogenase 0.601 0.577 0.97
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.060 None 1.000 6 1 2013 2016
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: 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: 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: 56731
Gene Symbol: SLC2A4RG
SLC2A4RG
SLC2A4 regulator 0.615 0.692 0.22
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.030 None 1.000 3 0 2000 2010
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: 4173
Gene Symbol: MCM4
MCM4
minichromosome maintenance complex component 4 0.666 0.654 1.5E-04
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.020 None 1.000 2 0 2013 2013
Entrez Id: 5341
Gene Symbol: PLEK
PLEK
pleckstrin 0.588 0.731 1.1E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.020 None 1.000 2 0 2000 2017
Entrez Id: 152273
Gene Symbol: FGD5
FGD5
FYVE, RhoGEF and PH domain containing 5 0.780 0.346 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.020 None 1.000 2 0 2017 2018
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: 8879
Gene Symbol: SGPL1
SGPL1
sphingosine-1-phosphate lyase 1 0.597 0.731 3.6E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.020 None 0.500 2 0 2017 2019
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: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 89846
Gene Symbol: FGD3
FGD3
FYVE, RhoGEF and PH domain containing 3 0.839 0.231 1.3E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6965
Gene Symbol: TRG
TRG
T cell receptor gamma locus 0.631 0.538
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 6966
Gene Symbol: TRGC1
TRGC1
T cell receptor gamma constant 1 0.663 0.385
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 1990 1990
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: 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: 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: 114112
Gene Symbol: TXNRD3
TXNRD3
thioredoxin reductase 3 0.653 0.615 8.3E-08
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 2017 2017