LOVD - Current system status

2014/10/02 18:05:44 CEST - Thursday, October 2nd 2014

Gene symbol Gene name Total variants Unique variants Patients
DSC2 Desmocollin 2 142 113 141
DSG2 Desmoglein 2 136 92 132
DSP Desmoplakin 196 162 192
JUP Junction Plakoglobin 90 39 90
PKP2 Plakophilin 2 406 161 386
TGFB3 Transforming Growth Factor, Beta 3 34 23 34
TMEM43 Transmembrane Protein 43 146 33 146
TP63 Tumor Protein p63 32 34 32
  Total of 8 gene entries 1182 657 1134