Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HEATR4 Q86WZ0 HEAT repeat containing 4 1.4E-29
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
SMN2 Q16637 survival of motor neuron 2, centromeric 0.10 0.459 0.769
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731