Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
FLVCR1 Q9Y5Y0 FLVCR heme transporter 1 Transporter 1.3E-03 0.529 0.885
POLR3H Q9Y535 RNA polymerase III subunit H Enzyme 6.0E-03 0.769 0.346
MMACHC Q9Y4U1 metabolism of cobalamin associated C 1.1E-13 0.644 0.615
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
ATP8A2 Q9NTI2 ATPase phospholipid transporting 8A2 Transporter 1.2E-12 0.659 0.577
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462