Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
ENG P17813 endoglin 1.00 0.446 0.846 35 102
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 23 15
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423 23 13
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615 23 13
BMPR2 Q13873 bone morphogenetic protein receptor type 2 Kinase 1.00 0.538 0.654 8 316
ABCA3 Q99758 ATP binding cassette subfamily A member 3 Transporter 6.6E-08 0.592 0.615 7 10
ACVRL1 P37023 activin A receptor like type 1 Kinase 9.7E-04 0.493 0.769 6 99
HYDIN Q4G0P3 HYDIN axonemal central pair apparatus protein 2.3E-24 0.641 0.538 5 4