abnormality of thumb phalanx Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A structural anomaly of one or more phalanges of the thumb. (Human Phenotype Ontology, HP_0009602)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009602
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Genes

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

Symbol Name
ACAN aggrecan
ACVR1 activin A receptor, type I
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP2 bone morphogenetic protein 2
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CHD7 chromodomain helicase DNA binding protein 7
CHSY1 chondroitin sulfate synthase 1
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
EP300 E1A binding protein p300
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC4 excision repair cross-complementation group 4
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
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
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA4 GATA binding protein 4
GDF5 growth differentiation factor 5
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
KIF7 kinesin family member 7
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MIPOL1 mirror-image polydactyly 1
MSX2 msh homeobox 2
NOG noggin
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
RAB23 RAB23, member RAS oncogene family
RAD51C RAD51 paralog C
RBM8A RNA binding motif protein 8A
ROR2 receptor tyrosine kinase-like orphan receptor 2
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
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLX4 SLX4 structure-specific endonuclease subunit
SNIP1 Smad nuclear interacting protein 1
SNX3 sorting nexin 3
SRCAP Snf2-related CREBBP activator protein
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D24 TBC1 domain family, member 24
TBX5 T-box 5
USP9X ubiquitin specific peptidase 9, X-linked
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I