Disease: Multiple congenital anomalies
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
VAX2 Q9UIW0 ventral anterior homeobox 2 Transcription factor 0.16 0.769 0.308
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346
TMEM151B Q8IW70 transmembrane protein 151B 0.14 0.792 0.346
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
GPD1 P21695 glycerol-3-phosphate dehydrogenase 1 Enzyme 5.6E-03 0.670 0.500
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500
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
NMNAT2 Q9BZQ4 nicotinamide nucleotide adenylyltransferase 2 Enzyme 0.99 0.670 0.500
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538