Disease: Strabismus
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885