Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
SLC25A24 Q6NUK1 solute carrier family 25 member 24 Transporter 3.4E-12 0.575 0.731
PAM16 Q9Y3D7 presequence translocase associated motor 16 Transporter 0.24 0.729 0.462
TMEM165 Q9HC07 transmembrane protein 165 Transporter 0.28 0.711 0.385
SLC39A8 Q9C0K1 solute carrier family 39 member 8 Transporter 0.67 0.584 0.769
BRF1 Q92994 BRF1 RNA polymerase III transcription initiation factor subunit Transcription factor 1.0E-04 0.700 0.462
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
SIM1 P81133 SIM bHLH transcription factor 1 Transcription factor 1.00 0.626 0.654
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769