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
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
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
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 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
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
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DNMT3B Q9UBC3 DNA methyltransferase 3 beta 0.20 0.453 0.846
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 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
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808