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: C4024166
Disease: Crumpled ear
Crumpled ear 		disease 0.100 None 0 0
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		disease 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1 		lon peptidase 1, mitochondrial 0.517 0.808 1.00
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		disease 0.100 None 0 0