pkp1 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (52)

Interactants (34)

XB-GENEPAGE-949308

Gene Symbol: pkp1 Gene Name: plakophilin 1

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: pkp1 assayed (3 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (19 sources): Abnormal eyebrow morphology, Abnormality of the nail, Absent eyelashes, Blepharitis, Chronic diarrhea, Dry skin, Ectodermal dysplasia, Erythema, Failure to thrive, Fragile skin, Furrowed tongue, Hyperkeratosis, Immunodeficiency, Palmoplantar keratoderma, Pruritus, Skin ulcer, Skin vesicle, Woolly hair, obsolete Hypotrichosis [+]
Mouse (15 sources): abnormal cell adhesion, abnormal corneocyte morphology, abnormal epidermis stratum corneum morphology, abnormal epidermis stratum granulosum morphology, abnormal epidermis suprabasal layer morphology, abnormal keratinocyte morphology, abnormal keratinocyte physiology, absent vibrissae, decreased birth weight, decreased keratinocyte proliferation, decreased skin tensile strength, impaired skin barrier function, neonatal lethality, complete penetrance, skin lesions, thin epidermis stratum granulosum [+]
View all ortholog results at Monarch