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: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		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: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 1
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		MORC family CW-type zinc finger 2 0.626 0.462 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 1
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 2
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C1867131
Disease: Broad hallux
Broad hallux 		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: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 1