Disease: Strabismus
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538
NDUFA4 O00483 NDUFA4 mitochondrial complex associated Enzyme 2.4E-02 0.695 0.462
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
MRAS O14807 muscle RAS oncogene homolog Enzyme modulator 0.92 0.590 0.731
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
NDUFB3 O43676 NADH:ubiquinone oxidoreductase subunit B3 1.6E-05 0.705 0.538
NDUFA2 O43678 NADH:ubiquinone oxidoreductase subunit A2 Enzyme 0.77 0.617 0.577
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769