INT324044

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Context Info
Confidence 0.43
First Reported 2010
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 1
Total Number 5
Disease Relevance 2.86
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.

nuclear envelope (Lemd3) nucleus (Lemd3) DNA binding (Lemd3)
Lemd3 (Mus musculus)
Pain Link Frequency Relevance Heat
Pain 10 21.44 Low Low
Disease Link Frequency Relevance Heat
Intellectual Impairment 5 95.32 Very High Very High Very High
Congenital Anomalies 5 92.84 High High
Breast Cancer 5 89.96 High High
Giant Cell Tumors 5 88.60 High High
Osteopoikilosis 130 88.00 High High
Osteogenic Sarcomas 15 87.68 High High
Chondrosarcoma 5 86.92 High High
Synovial Chondromatosis 5 85.24 High High
Cancer 15 84.24 Quite High
Disease 20 81.20 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
LEMD3 inactivation in mice was recently shown to result in the mid-gestation lethality [12].
Negative_regulation (inactivation) of LEMD3
1) Confidence 0.43 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 0.56 Pain Relevance 0
Thus, it seems legitimate to ask if inactivation of LEMD3 could also result in an increased mutational susceptibility and increased frequency of the post-zygotic second hit mutation occurrence.
Negative_regulation (inactivation) of LEMD3
2) Confidence 0.43 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 0.74 Pain Relevance 0
Clearly, further research is needed to address possible association of the LEMD3 loss of function with DNA mutation susceptibility.
Spec (possible) Negative_regulation (loss) of LEMD3
3) Confidence 0.43 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 1.26 Pain Relevance 0
PCR amplification of LEMD3 gene was performed in a 20 ?
Negative_regulation (amplification) of LEMD3
4) Confidence 0.43 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 0.20 Pain Relevance 0
All exons were compared to genomic sequence (NM_014319.3 for LEMD3 gene and NM_000127.2 for EXT1 gene) and variations were numbered according to Ensembl ENSG00000174106 for LEMD3 and ENSG00000182197 for EXT1.
Negative_regulation (numbered) of LEMD3
5) Confidence 0.43 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 0.11 Pain Relevance 0

General Comments

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