duplication of thumb phalanx Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. (Human Phenotype Ontology, HP_0009942)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009942
Similar Terms
Downloads & Tools

Genes

14 genes associated with the duplication of thumb phalanx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CANT1 calcium activated nucleotidase 1
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
KIF7 kinesin family member 7
LMBR1 limb development membrane protein 1
RAB23 RAB23, member RAS oncogene family
RPS19 ribosomal protein S19
SALL1 spalt-like transcription factor 1
TBX5 T-box 5