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: 3712
Gene Symbol: IVD
IVD 		isovaleryl-CoA dehydrogenase 0.705 0.462 1.5E-14
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.800 definitive 1.000 16 0 1983 2020
Entrez Id: 4060
Gene Symbol: LUM
LUM 		lumican 0.543 0.731 7.7E-02
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5319
Gene Symbol: PLA2G1B
PLA2G1B 		phospholipase A2 group IB 0.468 0.846 1.0E-10
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1 		prostaglandin-endoperoxide synthase 1 0.460 0.885 6.2E-07
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2 		prostaglandin-endoperoxide synthase 2 0.314 0.962 1.00
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7014
Gene Symbol: TERF2
TERF2 		telomeric repeat binding factor 2 0.541 0.731 0.99
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ 		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta 0.475 0.846 0.94
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9519
Gene Symbol: TBPL1
TBPL1 		TATA-box binding protein like 1 0.506 0.846 0.38
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10672
Gene Symbol: GNA13
GNA13 		G protein subunit alpha 13 0.656 0.538 0.87
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12 		MT-CO2 pseudogene 12 0.368 0.962
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 115908
Gene Symbol: CTHRC1
CTHRC1 		collagen triple helix repeat containing 1 0.556 0.692 2.7E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 151056
Gene Symbol: PLB1
PLB1 		phospholipase B1 0.488 0.846 1.7E-72
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 1 2010 2010
Entrez Id: 2932
Gene Symbol: GSK3B
GSK3B 		glycogen synthase kinase 3 beta 0.430 0.846 0.96
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 407026
Gene Symbol: MIR29C
MIR29C 		microRNA 29c 0.496 0.808
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9536
Gene Symbol: PTGES
PTGES 		prostaglandin E synthase 0.540 0.769 0.71
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2018 2018