Disease: Blepharoptosis
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 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
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
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
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808