INT230199

Context Info Confidence 0.19 First Reported 2008 Last Reported 2008 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.40 Pain Relevance 0

PISRT1 (Homo sapiens)

Pain Link Frequency Relevance Heat chemokine 2 5.00 cytokine 1 5.00 tolerance 1 5.00 Pain 1 5.00

Disease Link Frequency Relevance Heat Blepharophimosis 1 96.12 Syndrome 5 94.64 Animal Diseases 7 90.64 Ceroid Lipofuscinosis 1 62.96 Disease 95 50.00 Muscle Disease 1 49.40 Cleidocranial Dysplasia 1 40.88 Glycogen Storage Disease 3 5.04 Staphylococcus Infection 27 5.00 Scrapie 23 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

This region contains mainly repetitive sequences and its deletion affects the transcription of two genes, namely, PISRT1 that encodes a 1.5-kb mRNA devoid of open reading frame, and FOXL2, known to be responsible for blepharophimosis epicanthus inversus syndrome in humans (Crisponi et al. 2001).

Regulation (affects) of Transcription (transcription) of PISRT1 associated with syndrome and blepharophimosis

1) Confidence 0.19 Published 2008 Journal Mamm Genome Section Body Doc Link PMC2323435 Disease Relevance 0.40 Pain Relevance 0

General Comments

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