Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B4GALNT1 Q00973 beta-1,4-N-acetyl-galactosaminyltransferase 1 3.9E-05 0.644 0.615
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COG5 Q9UP83 component of oligomeric golgi complex 5 9.8E-20 0.656 0.538
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808