Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FLG-AS1 FLG antisense RNA 1 0.700 0.538
DMD P11532 dystrophin 1.00 0.423 0.923
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615