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Statistics


1. Related Disease  : 540
2. Related Gene : 343
3. KMD SNP : 56
4. Individual : 4855
5. Journal : 356 
6. Mutation : 2163
  substitution1507
  deletion374
  insertion79
  duplication57
  inversion0
  simple seque..129
  complex17
  TOTAL2163
  Coding regio..1797
  5' utr21
  3' utr54
  Intron165
  Complex112
  TOTAL2163

Top 5 genes

NF1 80
FBN1 54
PAH 52
ATP7B 50
TSC2 46


Top 5 diseases

Neurofibromatosis.. 72
Tuberous sclerosi.. 62
Tuberous sclerosi.. 62
Marfan syndrome.. 55
Myotonic dystroph.. 54



Reference Data

dbSNP :   132
RefSeq :   46
UniProt :   2011_03
InterPro :   31.0
HumanGen.. :   GRCh37
OMIM :   2011-03-28