INT273152

Context Info Confidence 0.26 First Reported 2009 Last Reported 2009 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.91 Pain Relevance 0

extracellular space (LCAT) small molecule metabolic process (LCAT) extracellular region (LCAT) transferase activity, transferring acyl groups (LCAT) lipid metabolic process (LCAT)

Anatomy Link Frequency eye 2 LCAT (Homo sapiens)

Pain Link Frequency Relevance Heat Pain 5 5.00 Inflammation 3 5.00 fibrosis 2 5.00 peripheral neuropathy 1 5.00 imagery 1 5.00

Disease Link Frequency Relevance Heat Disease 25 100.00 Fish-eye Disease 1 100.00 Paraproteinemias 1 92.32 Mucopolysaccharidoses 7 86.52 Sialidosis 2 85.16 Congenital Anomalies 21 40.32 Pressure And Volume Under Development 11 27.52 Adhesions 3 22.80 Corneal Opacity 15 5.00 Corneal Disease 9 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

SCD needs to be differentiated from other lipid keratopathies and particular from lethithin: cholesterol acyltransferase disease (LCAT disease, Norum disease) and fish eye disease caused by different mutations in the LCAT gene.

Positive_regulation (caused) of Localization (disease) of LCAT in eye associated with fish-eye disease and disease

1) Confidence 0.26 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2695576 Disease Relevance 0.91 Pain Relevance 0

General Comments

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