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familial partial lipodystrophy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ADRA2A
PLA2G16
CAV1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
regulation of vasoconstriction
regulation of tube diameter
regulation of blood vessel diameter
regulation of blood vessel size
regulation of tube size
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Disorder of extremity
OMIM - Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
OMIM - Lipodystrophy disorder
Cancer Gene Census - mutations in cancer genes
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Literature
Most Relevant Literature
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue dist…
Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypolepti…
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations.
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystroph…
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial…
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Clinical Trials
Most Relevant Clinical Trials
Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL)
The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial …
Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
Low Energy Diet and Familial Partial Lipodystrophy
Familial Partial Lipodystrophy Study
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