Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.130 None 1.000 0 2 2008 2014
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
P05549 transcription factor AP-2 alpha Transcription factor 37 0.488 0.769 0.99 0.100 None 0 1