INT175900

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Context Info
Confidence 0.00
First Reported 2004
Last Reported 2004
Negated 1
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 1.96
Pain Relevance 0.16

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generation of precursor metabolites and energy (ENPP1) extracellular space (ENPP1) small molecule metabolic process (ENPP1)
plasma membrane (ENPP1)
ENPP1 (Homo sapiens)
Pain Link Frequency Relevance Heat
headache 3 92.60 High High
Disease Link Frequency Relevance Heat
Cerebral Aneurysm 12 93.76 High High
Headache 3 92.60 High High
Hypertension 6 91.60 High High
Autosomal Dominant Polycystic Kidney 63 90.96 High High
Chronic Renal Failure 27 88.08 High High
Disease 48 84.56 Quite High
Polycystic Kidney Disease 18 79.28 Quite High
Cervical Cancer 3 73.60 Quite High
Helminth Infection 3 9.28 Low Low
Cyst 9 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The MRF-SSCP analysis of nested-PCR fragments amplified with SI4F/SI4B primers (SI 4) from PKD1 cDNA of an affected person (I-1) in this family revealed mobility shifts of restriction fragments digested with either Ava II or Bgl I + Hha I (Figure 4A).
Regulation (affected) of I-1
1) Confidence 0.00 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.58 Pain Relevance 0.09
Mutation segregation analysis by Eco0109 I digestion of amplified genomic DNA samples in the family PK039 showed that three affected members (I-1, I-2, and II-1) carried the mutation while a non-affected person (II-2) did not (Figure 4C).
Regulation (affected) of I-1
2) Confidence 0.00 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.68 Pain Relevance 0.06
Analysis of the mutation by Afl III digestion in the available members of family PK069 demonstrated that all four affected persons (II-1, II-2, II-3, and II-5) carried the mutation while two unaffected members (I-1 and II-4) did not (Figure 4F).


Neg (unaffected) Regulation (unaffected) of I-1
3) Confidence 0.00 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.70 Pain Relevance 0

General Comments

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