Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
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
DHH O43323 desert hedgehog signaling molecule 0.22 0.650 0.423
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
SRD5A2 P31213 steroid 5 alpha-reductase 2 Enzyme 0.564 0.615
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
INSL3 P51460 insulin like 3 1.6E-02 0.604 0.538
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 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
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
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