rib fusion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Complete or partial merging of adjacent ribs. (Human Phenotype Ontology, HP_0000902)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000154
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Genes

63 gene mutations causing the rib fusion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
AXIN1 axin 1
BMP7 bone morphogenetic protein 7
CDX1 caudal type homeobox 1
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DEAF1 DEAF1 transcription factor
DLK1 delta-like 1 homolog (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMRT2 doublesex and mab-3 related transcription factor 2
DVL2 dishevelled segment polarity protein 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR1 fibroblast growth factor receptor 1
FOXC2 forkhead box C2
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GSC goosecoid homeobox
HES7 hes family bHLH transcription factor 7
HOXA5 homeobox A5
HOXB7 homeobox B7
HOXB8 homeobox B8
HOXB9 homeobox B9
KAT2A K(lysine) acetyltransferase 2A
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP6 low density lipoprotein receptor-related protein 6
MBTD1 mbt domain containing 1
MDFI MyoD family inhibitor
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MKS1 Meckel syndrome, type 1
MYF6 myogenic factor 6 (herculin)
NDC1 NDC1 transmembrane nucleoporin
NRARP NOTCH-regulated ankyrin repeat protein
PAX3 paired box 3
PCGF2 polycomb group ring finger 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5B PDS5 cohesin associated factor B
PHC2 polyhomeotic homolog 2 (Drosophila)
PNN pinin, desmosome associated protein
POFUT1 protein O-fucosyltransferase 1
PSEN1 presenilin 1
PTK7 protein tyrosine kinase 7 (inactive)
RARG retinoic acid receptor, gamma
RIPPLY2 ripply transcriptional repressor 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SIX1 SIX homeobox 1
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SSBP3 single stranded DNA binding protein 3
T T, brachyury homolog (mouse)
TBX18 T-box 18
TBX6 T-box 6
TCF15 transcription factor 15 (basic helix-loop-helix)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TRAF4 TNF receptor-associated factor 4
TTC21B tetratricopeptide repeat domain 21B
UNCX UNC homeobox
VANGL2 VANGL planar cell polarity protein 2
WDR19 WD repeat domain 19
WNT5A wingless-type MMTV integration site family, member 5A
ZEB1 zinc finger E-box binding homeobox 1