Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SRY Q05066 sex determining region Y Transcription factor 0.456 0.808
POU5F1P3 POU class 5 homeobox 1 pseudogene 3 0.452 0.808
POU5F1P4 POU class 5 homeobox 1 pseudogene 4 0.452 0.808
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
AKR1C1 Q04828 aldo-keto reductase family 1 member C1 Enzyme 3.5E-15 0.593 0.615
STAR P49675 steroidogenic acute regulatory protein 8.8E-11 0.513 0.808
CYP2B6 P20813 cytochrome P450 family 2 subfamily B member 6 1.9E-10 0.428 0.846
ESR2 Q92731 estrogen receptor 2 Nuclear receptor 4.5E-08 0.400 0.923
LGR6 Q9HBX8 leucine rich repeat containing G protein-coupled receptor 6 G-protein coupled receptor 2.9E-06 0.502 0.923
GHR P10912 growth hormone receptor Signaling 8.4E-05 0.490 0.846
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
PAX1 P15863 paired box 1 0.70 0.593 0.654
FOXL2 P58012 forkhead box L2 Transcription factor 0.88 0.542 0.692
CCND1 P24385 cyclin D1 Enzyme modulator 0.89 0.344 0.923
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
EMX2 Q04743 empty spiracles homeobox 2 Transcription factor 0.95 0.623 0.577
POU5F1 Q01860 POU class 5 homeobox 1 0.95 0.441 0.846
NR0B1 P51843 nuclear receptor subfamily 0 group B member 1 Nuclear receptor 0.97 0.494 0.808
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
NR5A1 Q13285 nuclear receptor subfamily 5 group A member 1 Nuclear receptor 0.99 0.479 0.731
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808