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: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.310 None 1.000 1 0 2002 2003
Entrez Id: 1714
Gene Symbol: DGCR
DGCR 		DiGeorge syndrome chromosome region 0.678 0.538
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5297
Gene Symbol: PI4KA
PI4KA 		phosphatidylinositol 4-kinase alpha 0.695 0.577 3.1E-12
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54584
Gene Symbol: GNB1L
GNB1L 		G protein subunit beta 1 like 0.743 0.346 4.7E-05
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.010 None 1.000 1 0 2010 2010