Disease: Blepharoptosis
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
NEB P20929 nebulin 4.6E-41 0.608 0.692
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577