Disease: Macrocephaly
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
AFF2 P51816 AF4/FMR2 family member 2 Transcription factor 1.00 0.636 0.538
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ANK3 Q12955 ankyrin 3 1.00 0.578 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRWD3 Q6RI45 bromodomain and WD repeat domain containing 3 1.00 0.716 0.538
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CRADD P78560 CASP2 and RIPK1 domain containing adaptor with death domain 0.88 0.619 0.500
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
ERMARD Q5T6L9 ER membrane associated RNA degradation 5.8E-16 0.647 0.538
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769