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: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 1