Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
RSPH4A Q5TD94 radial spoke head component 4A 7.6E-11 0.666 0.538 19
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 13
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 12
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846 11
ENG P17813 endoglin 1.00 0.446 0.846 9
SMAD9 O15198 SMAD family member 9 Transcription factor 6.4E-05 0.666 0.308 8
DOCK8 Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 1.5E-11 0.578 0.731 7
ELN P15502 elastin 2.1E-14 0.415 0.885 7
HPS1 Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 1.3E-07 0.636 0.692 7
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923 7
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692 6
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692 6
EDN3 P14138 endothelin 3 Signaling 2.5E-02 0.608 0.577 6
SCNN1A P37088 sodium channel epithelial 1 subunit alpha Ion channel 1.1E-11 0.601 0.577 6
SCNN1B P51168 sodium channel epithelial 1 subunit beta Ion channel 5.8E-08 0.628 0.577 6
SCNN1G P51170 sodium channel epithelial 1 subunit gamma Ion channel 0.48 0.633 0.577 6
DNAAF1 Q8NEP3 dynein axonemal assembly factor 1 8.5E-12 0.633 0.654 5
DNAAF2 Q9NVR5 dynein axonemal assembly factor 2 6.5E-09 0.678 0.538 5
EFEMP2 O95967 EGF containing fibulin extracellular matrix protein 2 Calcium-binding protein 8.2E-03 0.559 0.692 5
PHOX2B Q99453 paired like homeobox 2B 0.94 0.565 0.731 5
AP3B1 O00203 adaptor related protein complex 3 subunit beta 1 Transporter 0.62 0.619 0.808 4
DNAI1 Q9UI46 dynein axonemal intermediate chain 1 Cellular structure 2.4E-08 0.597 0.692 4
DNAI2 Q9GZS0 dynein axonemal intermediate chain 2 Cellular structure 9.5E-13 0.666 0.500 4
DNAL1 Q4LDG9 dynein axonemal light chain 1 8.9E-03 0.682 0.500 4