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: 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: 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: 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: 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: 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: 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: 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: 80254
Gene Symbol: CEP63
CEP63
centrosomal protein 63 0.666 0.500 6.2E-25
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.200 None 0 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 5231
Gene Symbol: PGK1P1
PGK1P1
phosphoglycerate kinase 1 pseudogene 1 0.821 0.269
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 5224
Gene Symbol: PGAM2
PGAM2
phosphoglycerate mutase 2 0.792 0.308 1.4E-07
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.010 None 1.000 1 0 1990 1990
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