Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
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
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
BMPER Q8N8U9 BMP binding endothelial regulator Enzyme modulator 6.6E-07 0.641 0.577
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CCBE1 Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 1.5E-07 0.585 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CRLF1 O75462 cytokine receptor like factor 1 Signaling 4.0E-05 0.597 0.654
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DONSON Q9NYP3 downstream neighbor of SON 1.3E-07 0.636 0.538