absent thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. (Human Phenotype Ontology, HP_0009777)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009777
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Genes

18 genes associated with the absent thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FIG4 FIG4 phosphoinositide 5-phosphatase
PTEN phosphatase and tensin homolog
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RPL26 ribosomal protein L26
RPS19 ribosomal protein S19
SALL4 spalt-like transcription factor 4
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLX4 SLX4 structure-specific endonuclease subunit
TBX5 T-box 5
ZBTB16 zinc finger and BTB domain containing 16