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: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 14 0.587 0.615 8.5E-14 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 41 0.469 0.846 0.97 0.100 None 1.000 1 1 2014 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.100 None 0 1
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: 473
Gene Symbol: RERE
RERE 		Q9P2R6 arginine-glutamic acid dipeptide repeats 18 0.526 0.846 1.00 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		Q06609 RAD51 recombinase 26 0.447 0.846 2.7E-02 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1