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: 4360
Gene Symbol: MRC1
MRC1 		mannose receptor C-type 1 0.413 0.846 0.94
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.100 None 1.000 16 0 2005 2019
Entrez Id: 8926
Gene Symbol: SNURF
SNURF 		SNRPN upstream reading frame 0.623 0.538 0.46
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.100 None 1.000 10 0 2005 2018
Entrez Id: 3925
Gene Symbol: STMN1
STMN1 		stathmin 1 0.458 0.885 7.5E-02
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.100 None 1.000 10 0 2005 2018
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.100 None 1.000 10 0 2005 2018
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.100 None 1.000 10 0 2005 2018
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.100 None 1.000 10 0 2005 2018
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		calpain 3 0.564 0.615 3.6E-19
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.040 None 1.000 4 0 2004 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.040 None 1.000 4 0 1999 2017
Entrez Id: 721
Gene Symbol: C4B
C4B 		complement C4B (Chido blood group) 0.603 0.808 0.83
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.030 None 1.000 3 0 1992 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.030 None 1.000 3 0 2016 2018
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.030 None 1.000 3 1 2005 2015
Entrez Id: 720
Gene Symbol: C4A
C4A 		complement C4A (Rodgers blood group) 0.563 0.769 1.5E-11
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.030 None 0.667 3 0 1991 2004
Entrez Id: 7486
Gene Symbol: WRN
WRN 		WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2015 2016
Entrez Id: 445
Gene Symbol: ASS1
ASS1 		argininosuccinate synthase 1 0.523 0.731 1.5E-09
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2013 2014
Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2 		age-related maculopathy susceptibility 2 0.670 0.308 5.2E-04
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2011 2017
Entrez Id: 2395
Gene Symbol: FXN
FXN 		frataxin 0.510 0.654 0.34
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2000 2017
Entrez Id: 3033
Gene Symbol: HADH
HADH 		hydroxyacyl-CoA dehydrogenase 0.650 0.538 6.6E-05
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 1997 1998
Entrez Id: 6442
Gene Symbol: SGCA
SGCA 		sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 1997 2014
Entrez Id: 4507
Gene Symbol: MTAP
MTAP 		methylthioadenosine phosphorylase 0.514 0.731 7.6E-08
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 1995 2015
Entrez Id: 317
Gene Symbol: APAF1
APAF1 		apoptotic peptidase activating factor 1 0.525 0.769 9.6E-06
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2001 2003
Entrez Id: 2153
Gene Symbol: F5
F5 		coagulation factor V 0.441 0.846 5.9E-15
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2004 2016
Entrez Id: 100293534
Gene Symbol: C4B_2
C4B_2 		complement component 4B (Chido blood group), copy 2 0.670 0.731
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2000 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2009 2012
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2000 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA 		phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease 0.020 None 1.000 2 0 2013 2018