'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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
|