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: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.210 None 1.000 0 0 2016 2016
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.200 None 1.000 2 0 2004 2013
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
RAB18, member RAS oncogene family 0.582 0.692 0.91
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.200 None 1.000 2 0 2014 2015
Entrez Id: 92
Gene Symbol: ACVR2A
ACVR2A
activin A receptor type 2A 0.636 0.615 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.200 None 1.000 1 0 1995 1995
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.200 None 0 0