brachydactyly Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A bone development disease characterized by short fingers and toes. (Human Disease Ontology, DOID_0050581)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002544
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Genes

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

Symbol Name
ACAN aggrecan
BMPR1B bone morphogenetic protein receptor, type IB
COL2A1 collagen, type II, alpha 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DNASE1L2 deoxyribonuclease I-like 2
EVX2 even-skipped homeobox 2
FURIN furin (paired basic amino acid cleaving enzyme)
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
HOXA13 homeobox A13
HOXD12 homeobox D12
HOXD13 homeobox D13
LRP4 low density lipoprotein receptor-related protein 4
MECOM MDS1 and EVI1 complex locus
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
PITX1 paired-like homeodomain 1
PORCN porcupine homolog (Drosophila)
RDH10 retinol dehydrogenase 10 (all-trans)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SFRP2 secreted frizzled-related protein 2
SHH sonic hedgehog
TBX4 T-box 4