LOVD - Current system status

2016/05/28 05:56:24 CEST - Saturday, May 28th 2016

Gene symbol Gene name Total variants Unique variants Patients
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 348 348 1
ACBD5 acyl-CoA binding domain containing 5 2 1 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 11 8 4
ADAMTSL4 ADAM metallopeptidase with thrombospondin type 1 motif, like 4 68 15 22
BBS1 Bardet-Biedl syndrome 1 2 1 1
CDHR1 Cadherin-related family member 1 2 1 1
GCNT2 glucosaminyl (N-acetyl) transferase 2 1 1 1
GPR179 G protein-coupled receptor 179 6 5 5
MERTK c-mer proto-oncogene tyrosine kinase 6 1 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 3 1 2
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 220 42 110
RLBP1 Retinaldehyde binding protein 1 2 1 1
RS1 Retinoschisis 1 (X-linked, juveline) 995 196 977
TMEM126A Transmembrane protein 126A 5 3 1
TULP1 tubby like protein 1 263 43 134
VSX1 Visual system homeobox 1 2 2 1
  Total of 16 gene entries 1936 669 1265