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mendelian disorders
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CNKSR2
FLG2
ATRX
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Pathway Enrichment
Most Correlated Biogroups
LU_AGING_BRAIN_UP
GSE36527_CD62L_HIGH_VS_CD62L_LOW_TREG_CD69_NEG_KLRG1_NEG_UP
GSE22886_CD8_TCELL_VS_BCELL_NAIVE_DN
GSE2770_UNTREATED_VS_IL12_TREATED_ACT_CD4_TCELL_2H_UP
GSE15930_NAIVE_VS_48H_IN_VITRO_STIM_IFNAB_CD8_TCELL_DN
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Curated Studies
Most Correlated Studies
Intestinal-type and diffuse-type gastric cancers
Nestor-Guillermo Progeria patients expression profiles
Skeletal muscle tissue of patients with POLG1 mutation
Wilms tumors from different syndrome types and WT1 mutation statuses
OMIM - Metabolic diseases
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Literature
Most Relevant Literature
Histones: coming of age in Mendelian genetic disorders.
Disentangling multiple sclerosis phenotypes through Mendelian disorders: A network approach.
Phenotypic convergence: a novel phenomenon in the diagnostic process of Mendelian genetic disorders.
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epig…
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
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Clinical Trials
Most Relevant Clinical Trials
Genetics of Mendelian Diseases in Qatar
Mendelian Reverse Cholesterol Transport Study
Novel Genetic Disorders of the Immune System
Rare Bleeding Disorders in the Netherlands
Delineation of Novel Monogenic Disorders in the United Arab Emirates Population
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