Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SRD5A2 P31213 steroid 5 alpha-reductase 2 Enzyme 0.564 0.615
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654
INSL3 P51460 insulin like 3 1.6E-02 0.604 0.538
DHH O43323 desert hedgehog signaling molecule 0.22 0.650 0.423
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
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
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846