Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
ALX1 Q15699 ALX homeobox 1 0.18 0.636 0.462
ALX3 O95076 ALX homeobox 3 1.9E-02 0.578 0.692
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808