LOVD - Current system status

2017/07/25 10:47:56 CEST - Tuesday, July 25th 2017

Gene symbol Gene name Total variants Unique variants Patients
NIPBL Nipped-B homolog (Drosophila) 350 265 349
PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 213 13 209
PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 853 15 845
SMC1A Structural Maintenance of Chromosomes 1A 48 38 46
SMC3 Structural Maintenance of Chromosomes 3 18 16 18
  Total of 5 gene entries 1482 347 1467