buphthalmos Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_11211)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009274
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Genes

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

Symbol Name
BMP4 bone morphogenetic protein 4
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
LMX1B LIM homeobox transcription factor 1, beta