Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
NARS2 Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 7.1E-08 0.650 0.577 8
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 6
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 6
PCDH15 Q96QU1 protocadherin related 15 8.0E-25 0.601 0.577 6
USH1C Q9Y6N9 USH1 protein network component harmonin Cellular structure 4.0E-18 0.628 0.538 6
USH1G Q495M9 USH1 protein network component sans 3.7E-05 0.659 0.346 6
MET P08581 MET proto-oncogene, receptor tyrosine kinase Kinase 0.97 0.380 0.846 4
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 3
WHRN Q9P202 whirlin Cellular structure 7.7E-05 0.670 0.385 3
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846 2
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731 2
CD164 Q04900 CD164 molecule 0.49 0.674 0.462 2
ELMOD3 Q96FG2 ELMO domain containing 3 Signaling 5.0E-16 0.821 0.269 2
GJB3 O75712 gap junction protein beta 3 Cell-cell junction 2.2E-03 0.621 0.462 2
TMC1 Q8TDI8 transmembrane channel like 1 Ion channel 9.2E-19 0.769 0.346 2
BDP1 A6H8Y1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Nucleic acid binding 1.3E-21 0.890 0.154 1
CABP2 Q9NPB3 calcium binding protein 2 2.5E-03 0.861 0.115 1
CCDC50 Q8IVM0 coiled-coil domain containing 50 3.9E-07 0.751 0.423 1
CDC14A Q9UNH5 cell division cycle 14A 9.6E-08 0.736 0.385 1
CEACAM16 Q2WEN9 CEA cell adhesion molecule 16, tectorial membrane component 1.6E-05 0.805 0.192 1
CEMIP Q8WUJ3 cell migration inducing hyaluronidase 1 4.4E-17 0.617 0.615 1
CIB2 O75838 calcium and integrin binding family member 2 1.4E-03 0.545 0.808 1
CLDN14 O95500 claudin 14 Cell-cell junction 1.1E-04 0.705 0.462 1
COCH O43405 cochlin Receptor 1.2E-07 0.659 0.385 1