INT186637

Context Info Confidence 0.37 First Reported 2005 Last Reported 2009 Negated 0 Speculated 1 Reported most in Body Documents 3 Total Number 3 Disease Relevance 2.02 Pain Relevance 0.07

transport (ABCA4) ATPase activity (ABCA4) plasma membrane (ABCA4) transmembrane transport (ABCA4)

Anatomy Link Frequency fat 1 photoreceptor cells 1 ABCA4 (Homo sapiens)

Pain Link Frequency Relevance Heat Glutamate 2 83.52 Neurotransmitter 3 54.04 Dopamine 1 42.40 Central nervous system 2 29.60 Neuritis 2 12.36 Inflammation 8 5.00 adenocard 3 5.00 cytokine 2 5.00 metalloproteinase 2 5.00 Spinal cord 1 5.00

Disease Link Frequency Relevance Heat Age-related Macular Degeneration 74 99.84 Retina Disease 26 94.48 Disease 102 93.12 Rod Or Cone Dystrophy 3 92.56 Obesity 12 82.96 Ocular Toxicity (including Many Sub-types) 15 79.32 Stress 16 73.60 Targeted Disruption 9 63.84 Nicotine Addiction 2 62.56 Eye Disease 3 62.40

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The high level of ABCA4 polymorphism across individuals makes it difficult to determine any responsibility for ABCA4 in AMD [21]; however, its involvement is possible in a small number of cases [107].

Spec (determine) Regulation (responsibility) of ABCA4 associated with age-related macular degeneration

1) Confidence 0.37 Published 2009 Journal Stem Cells (Dayton, Ohio) Section Body Doc Link PMC2962903 Disease Relevance 1.08 Pain Relevance 0

The most notable of these, ABCA4, is involved in vitamin A transport in photoreceptor cells; mutations in the gene encoding ABCA4 can result in a spectrum of retinopathies, including retinitis pigmentosa, Stargardt's disease, cone-rod dystrophy, and ARMD.

Regulation (involved) of ABCA4 in photoreceptor cells associated with rod or cone dystrophy, age-related macular degeneration, disease and retina disease

2) Confidence 0.21 Published 2005 Journal Genome Biol Section Body Doc Link PMC1242209 Disease Relevance 0.65 Pain Relevance 0.07

However, after correcting for changes in FFM and fat mass, 24-h EE was still lowered by CR or CREX, suggesting that energy deficit rather than caloric restriction per se caused the increase in energy efficiency.

Regulation (changes) of FFM in fat

3) Confidence 0.08 Published 2007 Journal PLoS Medicine Section Body Doc Link PMC1808482 Disease Relevance 0.29 Pain Relevance 0

General Comments

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