INT205578

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Context Info
Confidence 0.43
First Reported 2007
Last Reported 2007
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 2
Disease Relevance 1.69
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.

cell differentiation (Wnt4) Golgi apparatus (Wnt4) cell-cell signaling (Wnt4)
cytoplasm (Wnt4) anatomical structure development (Wnt4) extracellular space (Wnt4)
Anatomy Link Frequency
ducts 1
Wnt4 (Mus musculus)
Pain Link Frequency Relevance Heat
imagery 12 5.00 Very Low Very Low Very Low
fibrosis 4 5.00 Very Low Very Low Very Low
pain pelvic 2 5.00 Very Low Very Low Very Low
anesthesia 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 130 99.88 Very High Very High Very High
Hyperandrogenism 8 96.68 Very High Very High Very High
Aplasia 58 90.60 High High
Diabetes Mellitus 6 78.56 Quite High
Polycystic Kidney Disease 2 75.20 Quite High
Androgen Insensitivity 14 5.00 Very Low Very Low Very Low
Hearing Impairment 10 5.00 Very Low Very Low Very Low
Congenital Anomalies 10 5.00 Very Low Very Low Very Low
Infertility 10 5.00 Very Low Very Low Very Low
Reprotox - General 1 6 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Finally, the very recent report on a second patient bearing another WNT4 mutation has led to the conclusion that WNT4 deficiency is responsible for a clinical phenotype distinct from the classic MRKH syndrome [81].
Negative_regulation (deficiency) of WNT4 associated with syndrome
1) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1832178 Disease Relevance 0.70 Pain Relevance 0
This new syndrome due to WNT4 mutations in XX women and characterized by absence of Müllerian ducts derivatives, hyperandrogenism and kidney optional adysplasia [80,81], is close but different from MRKH syndrome; therefore, it should be referred to as a proper name, such as "WNT4 syndrome" or "WNT4 defects" and be consequently recorded under an appropriate OMIM number.
Negative_regulation (defects) of WNT4 in ducts associated with syndrome and hyperandrogenism
2) Confidence 0.37 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1832178 Disease Relevance 1.00 Pain Relevance 0

General Comments

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