Source: BEFREE

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: 4158
Gene Symbol: MC2R
MC2R 		melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.700 None 0.944 12 0 1993 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.070 None 1.000 7 0 1997 2019
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.010 None < 0.001 1 0 2000 2000
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		insulin like growth factor 1 0.318 0.885 0.27
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1 		Ras protein specific guanine nucleotide releasing factor 1 0.537 0.769 1.00
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 65057
Gene Symbol: ACD
ACD 		ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease 0.010 None 1.000 1 0 2008 2008