camptodactyly Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. (Human Phenotype Ontology, HP_0012385)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003807
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Genes

4 gene mutations causing the camptodactyly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGRN agrin
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
HOXC8 homeobox C8
PRG4 proteoglycan 4