Phocomelia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0031575
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Genes

9 genes associated with the disease Phocomelia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
GNAS GNAS complex locus
NIPBL Nipped-B homolog (Drosophila)
RBM8A RNA binding motif protein 8A
SALL4 spalt-like transcription factor 4
SF3B4 splicing factor 3b, subunit 4, 49kDa
SMC3 structural maintenance of chromosomes 3
TBX5 T-box 5
WNT7A wingless-type MMTV integration site family, member 7A