Disease: Blepharoptosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731