abnormal cutaneous elastic fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity (Mammalian Phenotype Ontology, MP_0008418)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008418
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Genes

5 gene mutations causing the abnormal cutaneous elastic fiber morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CTSA cathepsin A
FBN1 fibrillin 1
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)