abnormal thoracic cage morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum (Mammalian Phenotype Ontology, MP_0004624)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004624
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Genes

278 gene mutations causing the abnormal thoracic cage morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACVR2B activin A receptor, type IIB
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
AMER1 APC membrane recruitment protein 1
ANO6 anoctamin 6
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL4D ADP-ribosylation factor-like 4D
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARSB arylsulfatase B
ASXL2 additional sex combs like transcriptional regulator 2
AXIN1 axin 1
BLZF1 basic leucine zipper nuclear factor 1
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP6 bone morphogenetic protein 6
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA2 breast cancer 2, early onset
BTG2 BTG family, member 2
C5ORF42 chromosome 5 open reading frame 42
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
CDX4 caudal type homeobox 4
CENPJ centromere protein J
CHRD chordin
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CSRNP1 cysteine-serine-rich nuclear protein 1
CTGF connective tissue growth factor
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DCHS1 dachsous cadherin-related 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
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPPA4 developmental pluripotency associated 4
DSCC1 DNA replication and sister chromatid cohesion 1
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
DYM dymeclin
E2F6 E2F transcription factor 6
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
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
FAM134C family with sequence similarity 134, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FKBP8 FK506 binding protein 8, 38kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FRAS1 Fraser extracellular matrix complex subunit 1
FSHR follicle stimulating hormone receptor
FST follistatin
FSTL1 follistatin-like 1
FUZ fuzzy planar cell polarity protein
GDF11 growth differentiation factor 11
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GPC3 glypican 3
GRHL2 grainyhead-like 2 (Drosophila)
GSC goosecoid homeobox
GSK3B glycogen synthase kinase 3 beta
HDAC4 histone deacetylase 4
HELLS helicase, lymphoid-specific
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
HOXB2 homeobox B2
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB7 homeobox B7
HOXB8 homeobox B8
HOXB9 homeobox B9
HOXC10 homeobox C10
HOXC4 homeobox C4
HOXC6 homeobox C6
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD3 homeobox D3
HOXD4 homeobox D4
HOXD8 homeobox D8
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
ITPK1 inositol-tetrakisphosphate 1-kinase
JARID2 jumonji, AT rich interactive domain 2
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KDM7A lysine (K)-specific demethylase 7A
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KY kyphoscoliosis peptidase
LASP1 LIM and SH3 protein 1
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNA lamin A/C
LMNB1 lamin B1
LMO4 LIM domain only 4
LRP6 low density lipoprotein receptor-related protein 6
LTBP3 latent transforming growth factor beta binding protein 3
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MBTD1 mbt domain containing 1
MDFI MyoD family inhibitor
MED31 mediator complex subunit 31
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
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
NDRG2 NDRG family member 2
NKX3-2 NK3 homeobox 2
NOG noggin
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NRARP NOTCH-regulated ankyrin repeat protein
NXN nucleoredoxin
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
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF14 PHD finger protein 14
PHOSPHO1 phosphatase, orphan 1
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PNN pinin, desmosome associated protein
POFUT1 protein O-fucosyltransferase 1
POSTN periostin, osteoblast specific factor
PPP5C protein phosphatase 5, catalytic subunit
PRRX1 paired related homeobox 1
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
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RING1 ring finger protein 1
RIPPLY2 ripply transcriptional repressor 2
RNF2 ring finger protein 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)
SAFB scaffold attachment factor B
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
SF3B1 splicing factor 3b, subunit 1, 155kDa
SGPL1 sphingosine-1-phosphate lyase 1
SH3PXD2B SH3 and PX domains 2B
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
SOX6 SRY (sex determining region Y)-box 6
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SPNS2 spinster homolog 2 (Drosophila)
SSBP3 single stranded DNA binding protein 3
SULF1 sulfatase 1
SULF2 sulfatase 2
SUMF1 sulfatase modifying factor 1
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAPT1 transmembrane anterior posterior transformation 1
TASP1 taspase, threonine aspartase, 1
TBX15 T-box 15
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
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM107 transmembrane protein 107
TRAF4 TNF receptor-associated factor 4
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TSHZ1 teashirt zinc finger homeobox 1
TTC21B tetratricopeptide repeat domain 21B
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 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
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3A wingless-type MMTV integration site family, member 3A
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
ZFAND5 zinc finger, AN1-type domain 5
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24