triphalangeal thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. (Human Phenotype Ontology, HP_0001199)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001199
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Genes

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

Symbol Name
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CHD7 chromodomain helicase DNA binding protein 7
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
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
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GLI3 GLI family zinc finger 3
HOXD13 homeobox D13
KIF7 kinesin family member 7
LMBR1 limb development membrane protein 1
MIPOL1 mirror-image polydactyly 1
MSX2 msh homeobox 2
PALB2 partner and localizer of BRCA2
RAD51C RAD51 paralog C
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SLX4 SLX4 structure-specific endonuclease subunit
SNX3 sorting nexin 3
TBC1D24 TBC1 domain family, member 24
TBX5 T-box 5