broad thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased thumb width without increased dorso-ventral dimension. (Human Phenotype Ontology, HP_0011304)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011304
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Genes

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

Symbol Name
ACAN aggrecan
B3GAT3 beta-1,3-glucuronyltransferase 3
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
EP300 E1A binding protein p300
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
G6PC3 glucose 6 phosphatase, catalytic, 3
GLI3 GLI family zinc finger 3
GPC3 glypican 3
HOXD13 homeobox D13
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
NOG noggin
RBM8A RNA binding motif protein 8A
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SNIP1 Smad nuclear interacting protein 1
SUMF1 sulfatase modifying factor 1
USP9X ubiquitin specific peptidase 9, X-linked
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I