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'en:epidermolysis bullosa simplex, autosomal recessive 1'
(id=8663757 ; fe=en:epidermolysis bullosa simplex, autosomal recessive 1 ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=890 creation date=2017-08-16 touchdate=2025-12-02 00:59:54.000)
≈ 29 relations sortantes

  1. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 42 / 1 -> en:krt14, ivs1as, a-c, -2
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt14, ivs1as, a-c, -2 | rel=r_associated | relid=0 | w=42
  2. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 35 / 0.833 -> en:blistering tends to improve with age
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=35
  3. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 35 / 0.833 -> en:cleavage within basal keratinocytes
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:cleavage within basal keratinocytes | rel=r_associated | relid=0 | w=35
  4. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 35 / 0.833 -> en:krt14, glu144ala
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt14, glu144ala | rel=r_associated | relid=0 | w=35
  5. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 34 / 0.81 -> en:atrophic scarring (less common)
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:atrophic scarring (less common) | rel=r_associated | relid=0 | w=34
  6. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 34 / 0.81 -> en:blistering, recurrent
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:blistering, recurrent | rel=r_associated | relid=0 | w=34
  7. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 34 / 0.81 -> en:epidermolysis bullosa simplex, localized, met119ile (allelic variant)
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:epidermolysis bullosa simplex, localized, met119ile (allelic variant) | rel=r_associated | relid=0 | w=34
  8. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 34 / 0.81 -> en:pachyonychia
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:pachyonychia | rel=r_associated | relid=0 | w=34
  9. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 32 / 0.762 -> en:krt5, glu418lys
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt5, glu418lys | rel=r_associated | relid=0 | w=32
  10. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 32 / 0.762 -> en:nail ridging
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:nail ridging | rel=r_associated | relid=0 | w=32
  11. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 31 / 0.738 -> en:autosomal recessive inheritance
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:autosomal recessive inheritance | rel=r_associated | relid=0 | w=31
  12. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 31 / 0.738 -> en:caused by mutation in the keratin-14 gene (krt14, 148066.0004).
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:caused by mutation in the keratin-14 gene (krt14, 148066.0004). | rel=r_associated | relid=0 | w=31
  13. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 31 / 0.738 -> en:epidermolysis bullosa simplex
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:epidermolysis bullosa simplex | rel=r_associated | relid=0 | w=31
  14. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 31 / 0.738 -> en:krt14, 2-bp del, nt313
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt14, 2-bp del, nt313 | rel=r_associated | relid=0 | w=31
  15. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 30 / 0.714 -> en:heterozygotes are not affected
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=30
  16. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 29 / 0.69 -> en:onset at birth or early childhood
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=29
  17. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 28 / 0.667 -> en:blistering may be generalized or localized
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:blistering may be generalized or localized | rel=r_associated | relid=0 | w=28
  18. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 28 / 0.667 -> en:krt14, tyr204ter
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt14, tyr204ter | rel=r_associated | relid=0 | w=28
  19. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 27 / 0.643 -> en:krt5, glu170lys
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt5, glu170lys | rel=r_associated | relid=0 | w=27
  20. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 26 / 0.619 -> en:disease exacerbation during summer due to heat
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=26
  21. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 26 / 0.619 -> en:krt14, 1-bp del, 92t
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:krt14, 1-bp del, 92t | rel=r_associated | relid=0 | w=26
  22. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 25 / 0.595 -> en:epidermolysis
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:epidermolysis | rel=r_associated | relid=0 | w=25
  23. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 25 / 0.595 -> en:epidermolysis bullosa
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:epidermolysis bullosa | rel=r_associated | relid=0 | w=25
  24. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 20 / 0.476 -> en:acantholysis bullosa
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:acantholysis bullosa | rel=r_associated | relid=0 | w=20
  25. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 20 / 0.476 -> en:oral blistering
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:oral blistering | rel=r_associated | relid=0 | w=20
  26. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 20 / 0.476 -> en:simplex bullosa epidermolysis
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=en:simplex bullosa epidermolysis | rel=r_associated | relid=0 | w=20
  27. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 20 / 0.476 -> Épidermolyse bulleuse simple
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=Épidermolyse bulleuse simple | rel=r_associated | relid=0 | w=20
  28. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 20 / 0.476 -> épidermolyse bulleuse simple
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=épidermolyse bulleuse simple | rel=r_associated | relid=0 | w=20
  29. en:epidermolysis bullosa simplex, autosomal recessive 1 -- r_associated #0: 20 / 0.476 -> hérédité autosomale récessive
    n1=en:epidermolysis bullosa simplex, autosomal recessive 1 | n2=hérédité autosomale récessive | rel=r_associated | relid=0 | w=20
≈ 29 relations entrantes

  1. épidermolyse bulleuse simple --- r_associated #0: 58 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=épidermolyse bulleuse simple | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=58
  2. Épidermolyse bulleuse simple --- r_associated #0: 56 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=Épidermolyse bulleuse simple | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=56
  3. en:krt14, glu144ala --- r_associated #0: 42 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt14, glu144ala | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=42
  4. en:epidermolysis bullosa simplex --- r_associated #0: 40 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:epidermolysis bullosa simplex | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=40
  5. en:blistering, recurrent --- r_associated #0: 35 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:blistering, recurrent | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=35
  6. en:krt14, 1-bp del, 92t --- r_associated #0: 35 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt14, 1-bp del, 92t | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=35
  7. en:krt14, tyr204ter --- r_associated #0: 35 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt14, tyr204ter | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=35
  8. en:krt5, glu418lys --- r_associated #0: 35 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt5, glu418lys | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=35
  9. en:oral blistering --- r_associated #0: 35 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:oral blistering | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=35
  10. en:krt14, 2-bp del, nt313 --- r_associated #0: 30 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt14, 2-bp del, nt313 | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=30
  11. en:acantholysis bullosa --- r_associated #0: 28 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:acantholysis bullosa | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=28
  12. en:cleavage within basal keratinocytes --- r_associated #0: 28 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:cleavage within basal keratinocytes | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=28
  13. en:heterozygotes are not affected --- r_associated #0: 28 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:heterozygotes are not affected | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=28
  14. en:krt5, glu170lys --- r_associated #0: 27 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt5, glu170lys | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=27
  15. en:autosomal recessive inheritance --- r_associated #0: 26 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:autosomal recessive inheritance | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=26
  16. en:epidermolysis bullosa simplex, localized, met119ile (allelic variant) --- r_associated #0: 26 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:epidermolysis bullosa simplex, localized, met119ile (allelic variant) | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=26
  17. en:krt14, ivs1as, a-c, -2 --- r_associated #0: 26 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:krt14, ivs1as, a-c, -2 | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=26
  18. en:simplex bullosa epidermolysis --- r_associated #0: 26 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:simplex bullosa epidermolysis | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=26
  19. hérédité autosomale récessive --- r_associated #0: 26 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=hérédité autosomale récessive | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=26
  20. en:Kobner's disease --- r_associated #0: 22 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:Kobner's disease | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=22
  21. en:atrophic scarring (less common) --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:atrophic scarring (less common) | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  22. en:blistering may be generalized or localized --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:blistering may be generalized or localized | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  23. en:blistering tends to improve with age --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:blistering tends to improve with age | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  24. en:caused by mutation in the keratin-14 gene (krt14, 148066.0004). --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:caused by mutation in the keratin-14 gene (krt14, 148066.0004). | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  25. en:disease exacerbation during summer due to heat --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:disease exacerbation during summer due to heat | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  26. en:nail ridging --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:nail ridging | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  27. en:onset at birth or early childhood --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:onset at birth or early childhood | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  28. en:pachyonychia --- r_associated #0: 20 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=en:pachyonychia | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=20
  29. Épidermolyse bulleuse simplex --- r_associated #0: 16 --> en:epidermolysis bullosa simplex, autosomal recessive 1
    n1=Épidermolyse bulleuse simplex | n2=en:epidermolysis bullosa simplex, autosomal recessive 1 | rel=r_associated | relid=0 | w=16
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contact: mathieu.lafourcade@lirmm.fr