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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
KCNJ10 P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 0.15 0.599 0.654