Disease: Downward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CDH11 P55287 cadherin 11 1.00 0.512 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DNAJC21 Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 2.1E-07 0.606 0.731
DMD P11532 dystrophin 1.00 0.423 0.923