INT227399

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Context Info
Confidence 0.01
First Reported 2007
Last Reported 2007
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 1
Disease Relevance 0.71
Pain Relevance 0

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

cytoskeleton (Alms1) cilium (Alms1) molecular_function (Alms1)
lipid metabolic process (Alms1) cytoplasm (Alms1)
D5Mit424 (Mus musculus)
Alms1 (Mus musculus)
D5Mit424 - V424I (1)
Pain Link Frequency Relevance Heat
fibrosis 1 5.00 Very Low Very Low Very Low
Pain 1 5.00 Very Low Very Low Very Low
alcohol 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 9 85.56 High High
Alstrom Syndrome 57 74.72 Quite High
Renal Disease 5 72.12 Quite High
Diabetes Mellitus 11 70.00 Quite High
Dilated Cardiomyopathy 11 68.40 Quite High
Retina Disease 3 63.64 Quite High
Deafness 6 26.52 Quite Low
Refsum Disease 1 24.56 Low Low
Spastic Paraparesis 1 22.16 Low Low
Symphalangism 3 18.32 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Our results indicate that ALMS1 mutations of V424I and H3882Y are the molecular basis for the Alstrom phenotype in the proband presented here.
V424I (V424I) Binding (mutations) of ALMS1
1) Confidence 0.01 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2266715 Disease Relevance 0.71 Pain Relevance 0

General Comments

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