Disease: Multiple congenital anomalies
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769