Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
RPS23 P62266 ribosomal protein S23 Nucleic acid binding 0.86 0.700 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
COG5 Q9UP83 component of oligomeric golgi complex 5 9.8E-20 0.656 0.538
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
THOC2 Q8NI27 THO complex 2 Transcription factor 1.00 0.650 0.538
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PHF8 Q9UPP1 PHD finger protein 8 1.00 0.631 0.577
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
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654