Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
TMPRSS3 P57727 transmembrane serine protease 3 Enzyme 6.1E-11 0.650 0.538
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
STX1B P61266 syntaxin 1B Transporter 0.99 0.650 0.308
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SNHG14 small nucleolar RNA host gene 14 0.656 0.577