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: 253738
Gene Symbol: EBF3
EBF3 		Q9H4W6 EBF transcription factor 3 58 0.595 0.731 1.00 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 33 0.521 0.808 1.00 0.100 None 0 1
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		P17302 gap junction protein alpha 1 Cell-cell junction 23 0.393 0.885 0.16 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		P29033 gap junction protein beta 2 Cell-cell junction 62 0.441 0.846 6.6E-16 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.100 None 0 2