INT154571

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Context Info
Confidence 0.35
First Reported 2008
Last Reported 2008
Negated 0
Speculated 0
Reported most in Abstract
Documents 1
Total Number 1
Disease Relevance 0.67
Pain Relevance 0.07

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

cell proliferation (LIPA) cell morphogenesis (LIPA) lipid metabolic process (LIPA)
lysosome (LIPA)
LIPA (Homo sapiens)
Pain Link Frequency Relevance Heat
abdominal pain 1 74.76 Quite High
Disease Link Frequency Relevance Heat
Disorder Of Lipid Metabolism 6 100.00 Very High Very High Very High
Abdominal Pain 1 74.76 Quite High
Death 1 65.76 Quite High
Wolman Disease 1 65.04 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In summary, we describe a CESD patient compound heterozygous for the LIPA exon 8 splice junction mutation and a novel missense mutation, N98S.
Regulation (heterozygous) of CESD associated with disorder of lipid metabolism
1) Confidence 0.35 Published 2008 Journal Clin. Chim. Acta Section Abstract Doc Link 18775687 Disease Relevance 0.67 Pain Relevance 0.07

General Comments

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