Source: CLINVAR

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: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 3
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 867
Gene Symbol: CBL
CBL 		Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1