Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385