Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
UVRAG Q9P2Y5 UV radiation resistance associated 0.99 0.436 0.769
CKAP4 Q07065 cytoskeleton associated protein 4 0.51 0.436 0.731
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
PAX6 P26367 paired box 6 1.00 0.450 0.769