abnormal rib morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bones forming the bony wall of the chest (Mammalian Phenotype Ontology, MP_0000150)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000150
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Genes

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

Symbol Name
ACAN aggrecan
ACVR2B activin A receptor, type IIB
ANO6 anoctamin 6
ARL4D ADP-ribosylation factor-like 4D
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARSB arylsulfatase B
AXIN1 axin 1
BLZF1 basic leucine zipper nuclear factor 1
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA2 breast cancer 2, early onset
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBFB core-binding factor, beta subunit
CBX2 chromobox homolog 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CHSY1 chondroitin sulfate synthase 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CTGF connective tissue growth factor
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DEAF1 DEAF1 transcription factor
DERL2 derlin 2
DLK1 delta-like 1 homolog (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DMRT2 doublesex and mab-3 related transcription factor 2
DPPA4 developmental pluripotency associated 4
DSCC1 DNA replication and sister chromatid cohesion 1
DVL2 dishevelled segment polarity protein 2
DYM dymeclin
EFNB1 ephrin-B1
EN1 engrailed homeobox 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FKBP8 FK506 binding protein 8, 38kDa
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FRAS1 Fraser extracellular matrix complex subunit 1
FST follistatin
FSTL1 follistatin-like 1
FUZ fuzzy planar cell polarity protein
GDF11 growth differentiation factor 11
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GSC goosecoid homeobox
HES7 hes family bHLH transcription factor 7
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA4 homeobox A4
HOXA5 homeobox A5
HOXA6 homeobox A6
HOXA9 homeobox A9
HOXB6 homeobox B6
HOXB7 homeobox B7
HOXB8 homeobox B8
HOXB9 homeobox B9
HOXC10 homeobox C10
HOXC4 homeobox C4
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD4 homeobox D4
HOXD8 homeobox D8
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
ITPK1 inositol-tetrakisphosphate 1-kinase
KAT2A K(lysine) acetyltransferase 2A
KDM7A lysine (K)-specific demethylase 7A
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNA lamin A/C
LRP6 low density lipoprotein receptor-related protein 6
MAP3K4 mitogen-activated protein kinase kinase kinase 4
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
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MSGN1 mesogenin 1
MTF2 metal response element binding transcription factor 2
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYOG myogenin (myogenic factor 4)
MYSM1 Myb-like, SWIRM and MPN domains 1
NABP2 nucleic acid binding protein 2
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDC1 NDC1 transmembrane nucleoporin
NKX3-2 NK3 homeobox 2
NOG noggin
NPR2 natriuretic peptide receptor 2
NRARP NOTCH-regulated ankyrin repeat protein
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
OSTM1 osteopetrosis associated transmembrane protein 1
PAX1 paired box 1
PAX3 paired box 3
PCGF2 polycomb group ring finger 2
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PGAP1 post-GPI attachment to proteins 1
PHC2 polyhomeotic homolog 2 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PITX2 paired-like homeodomain 2
PNN pinin, desmosome associated protein
POFUT1 protein O-fucosyltransferase 1
POSTN periostin, osteoblast specific factor
PPP5C protein phosphatase 5, catalytic subunit
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTCH1 patched 1
PTHLH parathyroid hormone-like hormone
PTK7 protein tyrosine kinase 7 (inactive)
RAI1 retinoic acid induced 1
RARG retinoic acid receptor, gamma
RING1 ring finger protein 1
RIPPLY2 ripply transcriptional repressor 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SC5D sterol-C5-desaturase
SCHIP1 schwannomin interacting protein 1
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SHH sonic hedgehog
SIK3 SIK family kinase 3
SIX1 SIX homeobox 1
SLC25A30 solute carrier family 25, member 30
SMAD3 SMAD family member 3
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SP7 Sp7 transcription factor
SPNS2 spinster homolog 2 (Drosophila)
SSBP3 single stranded DNA binding protein 3
T T, brachyury homolog (mouse)
TASP1 taspase, threonine aspartase, 1
TBX18 T-box 18
TBX6 T-box 6
TCF15 transcription factor 15 (basic helix-loop-helix)
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TMEM107 transmembrane protein 107
TRAF4 TNF receptor-associated factor 4
TRPS1 trichorhinophalangeal syndrome I
TTC21B tetratricopeptide repeat domain 21B
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
UNCX UNC homeobox
VANGL2 VANGL planar cell polarity protein 2
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24