Disease: Downward slant of palpebral fissure
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATP6V1B2 P21281 ATPase H+ transporting V1 subunit B2 Transporter 0.99 0.606 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731