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: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.800 strong 0.970 33 28 2000 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.100 None 1.000 4 1 2013 2017
Entrez Id: 2495
Gene Symbol: FTH1
FTH1 		ferritin heavy chain 1 0.559 0.731 0.14
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.100 None 1.000 1 7 2009 2009
Entrez Id: 1636
Gene Symbol: ACE
ACE 		angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.040 None 1.000 4 0 2016 2018
Entrez Id: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.030 None 1.000 3 0 2013 2018
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1 		angiotensin II receptor type 1 0.423 0.846 5.3E-04
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 847
Gene Symbol: CAT
CAT 		catalase 0.359 0.962 1.6E-10
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		solute carrier family 33 member 1 0.529 0.769 9.9E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 101054525
Gene Symbol: PGR-AS1
PGR-AS1 		PGR antisense RNA 1 0.514 0.808
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		nuclear receptor subfamily 3 group C member 2 0.469 0.846 0.84
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3298
Gene Symbol: HSF2
HSF2 		heat shock transcription factor 2 0.711 0.423 0.98
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9518
Gene Symbol: GDF15
GDF15 		growth differentiation factor 15 0.429 0.808 3.0E-07
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.010 None 1.000 1 0 2019 2019