Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
DES P17661 desmin 8.8E-03 0.460 0.846
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423