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: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 3
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		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: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 3
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 2
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 1