aplasia/hypoplasia of the 1st metacarpal Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). (Human Phenotype Ontology, HP_0010026)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010026
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Genes

8 genes associated with the aplasia/hypoplasia of the 1st metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
CANT1 calcium activated nucleotidase 1
GDF5 growth differentiation factor 5
HOXA13 homeobox A13
NOG noggin
PCNT pericentrin
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1