phocomelia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). (Human Phenotype Ontology, HP_0009829)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009829
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Genes

7 genes associated with the phocomelia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
NIPBL Nipped-B homolog (Drosophila)
NSDHL NAD(P) dependent steroid dehydrogenase-like
RBM8A RNA binding motif protein 8A
SF3B4 splicing factor 3b, subunit 4, 49kDa
TBX5 T-box 5
WNT7A wingless-type MMTV integration site family, member 7A