LOVD - Current system status

2018/02/24 07:05:07 CET - Saturday, February 24th 2018

Gene symbol Gene name Total variants Unique variants Patients
DSC2 Desmocollin 2 142 113 141
DSG2 Desmoglein 2 211 168 207
DSP Desmoplakin 319 281 315
JUP Junction Plakoglobin 116 64 116
PKP2 Plakophilin 2 521 276 501
TGFB3 Transforming Growth Factor, Beta 3 35 24 35
TMEM43 Transmembrane Protein 43 179 66 179
TP63 Tumor Protein p63 32 34 32
  Total of 8 gene entries 1555 1026 1507