abnormal phalanx morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the long bones of the digits (Mammalian Phenotype Ontology, MP_0005306)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005306
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Genes

61 gene mutations causing the abnormal phalanx morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
BMPR1B bone morphogenetic protein receptor, type IB
CBFB core-binding factor, beta subunit
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CTSK cathepsin K
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
EN1 engrailed homeobox 1
EVX2 even-skipped homeobox 2
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FMN1 formin 1
FOXC1 forkhead box C1
FREM2 FRAS1 related extracellular matrix protein 2
FSTL1 follistatin-like 1
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLI3 GLI family zinc finger 3
HOXA13 homeobox A13
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IFT88 intraflagellar transport 88
IHH indian hedgehog
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
JAG2 jagged 2
LMBR1 limb development membrane protein 1
LRP5 low density lipoprotein receptor-related protein 5
MKS1 Meckel syndrome, type 1
MYO10 myosin X
NPR3 natriuretic peptide receptor 3
PLAGL1 pleiomorphic adenoma gene-like 1
PORCN porcupine homolog (Drosophila)
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
RAI1 retinoic acid induced 1
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SFN stratifin
SHH sonic hedgehog
SOX11 SRY (sex determining region Y)-box 11
SP3 Sp3 transcription factor
TBX15 T-box 15
TBX5 T-box 5
TP63 tumor protein p63
WDR19 WD repeat domain 19
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16
ZEB1 zinc finger E-box binding homeobox 1