Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
AKR1C1 Q04828 aldo-keto reductase family 1 member C1 Enzyme 3.5E-15 0.593 0.615
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
CCND1 P24385 cyclin D1 Enzyme modulator 0.89 0.344 0.923
CYP2B6 P20813 cytochrome P450 family 2 subfamily B member 6 1.9E-10 0.428 0.846
EMX2 Q04743 empty spiracles homeobox 2 Transcription factor 0.95 0.623 0.577
ESR2 Q92731 estrogen receptor 2 Nuclear receptor 4.5E-08 0.400 0.923
FOXL2 P58012 forkhead box L2 Transcription factor 0.88 0.542 0.692
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
GHR P10912 growth hormone receptor Signaling 8.4E-05 0.490 0.846
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808
LGR6 Q9HBX8 leucine rich repeat containing G protein-coupled receptor 6 G-protein coupled receptor 2.9E-06 0.502 0.923
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962
NR0B1 P51843 nuclear receptor subfamily 0 group B member 1 Nuclear receptor 0.97 0.494 0.808
NR5A1 Q13285 nuclear receptor subfamily 5 group A member 1 Nuclear receptor 0.99 0.479 0.731
PAX1 P15863 paired box 1 0.70 0.593 0.654
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
POU5F1 Q01860 POU class 5 homeobox 1 0.95 0.441 0.846
POU5F1P3 POU class 5 homeobox 1 pseudogene 3 0.452 0.808
POU5F1P4 POU class 5 homeobox 1 pseudogene 4 0.452 0.808
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
SRY Q05066 sex determining region Y Transcription factor 0.456 0.808
STAR P49675 steroidogenic acute regulatory protein 8.8E-11 0.513 0.808