Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DOCK6 Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 1.3E-26 0.610 0.577
DPH1 Q9BZG8 diphthamide biosynthesis 1 8.0E-17 0.653 0.538
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
EYA1 Q99502 EYA transcriptional coactivator and phosphatase 1 0.95 0.531 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731