Disease: Multiple congenital anomalies
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731