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Pick's disease
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
MAPT
PSEN1
HLA-DRB3
RPE65
PCDH7
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
cellular response to stress
protein modification process
mitochondrion
GGGCGGR_SP1_Q6
regulation of cellular response to heat
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Curated Studies
Most Correlated Studies
Brain, liver and spleen tissues from Niemann-Pick Type C (NPC) disease progression
In vitro differentiation of macrophages from monocytes of NPC patients and healthy donors
Mouse Phenotypes - Niemann-Pick disease
OMIM - Frontotemporal dementia
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disea…
Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].
Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick…
A Niemann-pick C1 disease child with BCG-itis: a case report and analysis.
A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, T…
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Clinical Trials
Most Relevant Clinical Trials
Induced Pluripotent Stem Cells for Niemann Pick Disease
Biomarker for Niemann Pick Type C Disease (BioNPC)
N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
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