INT255579

Context Info Confidence 0.03 First Reported 2008 Last Reported 2008 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.65 Pain Relevance 0

cytosol (GK) mitochondrion (GK) small molecule metabolic process (GK) carbohydrate metabolic process (GK) cytoplasm (GK)

GK (Homo sapiens)

Pain Link Frequency Relevance Heat Pain 2 5.00

Disease Link Frequency Relevance Heat Delayed Puberty 1 87.92 Fever 1 82.48 Muscle Weakness 4 81.04 Muscular Dystrophy 17 76.84 Syndrome 5 74.40 Hypogonadotropic Hypogonadism 1 70.88 Adrenal Insufficiency 4 50.08 Disease 3 5.00 Epstein-barr Virus 2 5.00 Turner's Syndrome 2 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

We report the first case of a girl with salt losing AHC, mild dystrophinopathy and GKD associated with confirmed skewing of X inactivation of variable degree in different tissues.

Negative_regulation (losing) of GKD

1) Confidence 0.03 Published 2008 Journal Journal of Medical Genetics Section Body Doc Link PMC2602739 Disease Relevance 0.65 Pain Relevance 0

General Comments

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