INT199667

Context Info Confidence 0.04 First Reported 2006 Last Reported 2006 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 1.96 Pain Relevance 0.09

cytoplasm (Cep290, Atf4) nucleus (Cep290, Atf4) cytoskeleton (Cep290, Atf4) transport (Cep290) DNA binding (Atf4) cilium (Cep290)

Cep290 (Mus musculus) Atf4 (Mus musculus)

Pain Link Frequency Relevance Heat imagery 7 67.20 Thalamus 1 52.44 midbrain 1 51.92 medulla 2 29.68 Sicca syndrome 6 5.00 Spinal cord 5 5.00 Bile 2 5.00 peripheral neuropathy 2 5.00 Action potential 2 5.00 palliative 1 5.00

Disease Link Frequency Relevance Heat Polycystic Kidney Disease 1 97.68 Syndrome 33 93.92 Cerebellar Ataxia 48 92.96 Ataxia 92 87.76 Muscle Hypotonia 2 80.32 Cerebellar Diseases 1 75.52 Dysarthria 9 70.80 Ocular Toxicity (including Many Sub-types) 9 69.84 Tremor 1 68.64 Disease 31 63.36

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

CEP290 or NPHP6 encodes for nephrocystin-6, a centrosomal protein that modulates the activity of ATF4, a transcription factor implicated in the cAMP-dependent renal cyst formation.

nephrocystin-6 Regulation (modulates) of ATF4 associated with polycystic kidney disease

1) Confidence 0.04 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 1.96 Pain Relevance 0.09

General Comments

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