Source: ALL

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 445347
Gene Symbol: TARP
TARP 		TCR gamma alternate reading frame protein 0.638 0.500
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.010 None 1.000 1 0 1990 1990
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: 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: 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: 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: 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