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: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C1853638
Disease: Broad neck
Broad neck 		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: C1853638
Disease: Broad neck
Broad neck 		phenotype 0.100 None 0 7
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		T-box transcription factor 2 0.544 0.769 0.99
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype 0.100 None 0 1