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Disorders of translation and posttranslational modification
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Disorders of
translation
and
posttranslational modification
Translation
Ribosome
:
Diamond–Blackfan anemia
FMR1
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Premature ovarian failure 1
Initiation factor
:
Leukoencephalopathy with vanishing white matter
snRNP
:
Retinitis pigmentosa 33
Posttranslational modification
Protein folding
Alzheimer's disease
Huntington's disease
Creutzfeldt–Jakob disease
chaperonins:
3-Methylglutaconic aciduria 5
Protein targeting
I-cell disease
Ubiquitin
E1
:
X-linked spinal muscular atrophy 2
E3
:
Johanson–Blizzard syndrome
Von Hippel–Lindau disease
3-M syndrome
Angelman syndrome
Deubiquitinating enzyme
:
Machado–Joseph disease
Aneurysmal bone cyst
Multiple familial trichoepithelioma 1
SUMO
OFC10
Other
Multiple sulfatase deficiency
Hyperproinsulinemia
Ehlers–Danlos syndrome 6
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Disorders of synthesis of DNA, RNA, and proteins
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