micromelia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of abnormally small extremities. (Human Phenotype Ontology, HP_0002983)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008736
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Genes

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

Symbol Name
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
GDF5 growth differentiation factor 5
NPR2 natriuretic peptide receptor 2