Source: HPO

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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0424693
Disease: Broad skull
Broad skull
phenotype 0.100 None 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0424693
Disease: Broad skull
Broad skull
phenotype 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
lon peptidase 1, mitochondrial 0.517 0.808 1.00
CUI: C0424693
Disease: Broad skull
Broad skull
phenotype 0.100 None 0 0