Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
CEACAM16 Q2WEN9 CEA cell adhesion molecule 16, tectorial membrane component 1.6E-05 0.805 0.192 1
CACNB4 O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 3.1E-02 0.653 0.231 1
ALDH4A1 P30038 aldehyde dehydrogenase 4 family member A1 1.4E-05 0.792 0.231 1
RASGRP2 Q7LDG7 RAS guanyl releasing protein 2 Enzyme modulator 0.24 0.769 0.231 1
RANGRF Q9HD47 RAN guanine nucleotide release factor 2.4E-05 0.751 0.231 1
RINT1 Q6NUQ1 RAD50 interactor 1 5.3E-13 0.743 0.231 1
EPS8L2 Q9H6S3 EPS8 like 2 Receptor 1.5E-06 0.890 0.231 1
EFHC1 Q5JVL4 EF-hand domain containing 1 1.9E-17 0.659 0.231 1
TMEM132E Q6IEE7 transmembrane protein 132E 4.5E-05 0.805 0.231 1
LOXHD1 Q8IVV2 lipoxygenase homology domains 1 5.6E-26 0.792 0.231 1
GIPC3 Q8TF64 GIPC PDZ domain containing family member 3 Enzyme 9.3E-03 0.780 0.231 1
OTOG Q6ZRI0 otogelin 6.6E-37 0.805 0.231 1
HCN4 Q9Y3Q4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 Ion channel 1.00 0.617 0.269 8
SCN3B Q9NY72 sodium voltage-gated channel beta subunit 3 Ion channel 5.1E-02 0.686 0.269 7
GFM2 Q969S9 G elongation factor mitochondrial 2 Enzyme 1.5E-18 0.736 0.269 7
ELMOD3 Q96FG2 ELMO domain containing 3 Signaling 5.0E-16 0.821 0.269 2
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269 1
MYOM1 P52179 myomesin 1 1.7E-40 0.839 0.269 1
RIPOR2 Q9Y4F9 RHO family interacting cell polarization regulator 2 0.92 0.792 0.269 1
TRIOBP Q9H2D6 TRIO and F-actin binding protein Enzyme modulator 2.0E-28 0.743 0.269 1
WBP2 Q969T9 WW domain binding protein 2 0.35 0.722 0.269 1
ACAD9 Q9H845 acyl-CoA dehydrogenase family member 9 Enzyme 4.5E-08 0.722 0.269 1
MYO3A Q8NEV4 myosin IIIA Kinase 1.8E-45 0.780 0.269 1
PRODH2 Q9UF12 proline dehydrogenase 2 2.5E-13 0.890 0.269 1