abnormal presacral vertebrae morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the vertebrae anterior to the sacrum (Mammalian Phenotype Ontology, MP_0000459)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000459
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Genes

183 gene mutations causing the abnormal presacral vertebrae morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ACVR2B activin A receptor, type IIB
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
AXIN1 axin 1
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BRDT bromodomain, testis-specific
BTG2 BTG family, member 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBX2 chromobox homolog 2
CBX5 chromobox homolog 5
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CDX4 caudal type homeobox 4
CENPJ centromere protein J
CHRD chordin
CHUK conserved helix-loop-helix ubiquitous kinase
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CTGF connective tissue growth factor
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DEAF1 DEAF1 transcription factor
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMRT2 doublesex and mab-3 related transcription factor 2
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSCC1 DNA replication and sister chromatid cohesion 1
DVL2 dishevelled segment polarity protein 2
E2F6 E2F transcription factor 6
EFNA1 ephrin-A1
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM134C family with sequence similarity 134, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
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
FLNB filamin B, beta
FOXC1 forkhead box C1
FSHR follicle stimulating hormone receptor
FST follistatin
FSTL1 follistatin-like 1
GDF11 growth differentiation factor 11
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GSC goosecoid homeobox
HELLS helicase, lymphoid-specific
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA3 homeobox A3
HOXA4 homeobox A4
HOXA5 homeobox A5
HOXA6 homeobox A6
HOXA9 homeobox A9
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB8 homeobox B8
HOXC10 homeobox C10
HOXC4 homeobox C4
HOXC6 homeobox C6
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD1 homeobox D1
HOXD11 homeobox D11
HOXD3 homeobox D3
HOXD4 homeobox D4
HOXD8 homeobox D8
HOXD9 homeobox D9
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HYAL2 hyaluronoglucosaminidase 2
IDUA iduronidase, alpha-L-
IGF2 insulin-like growth factor 2
JMJD1C jumonji domain containing 1C
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KDM7A lysine (K)-specific demethylase 7A
KMT2A lysine (K)-specific methyltransferase 2A
KY kyphoscoliosis peptidase
LASP1 LIM and SH3 protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNB1 lamin B1
LMO4 LIM domain only 4
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTBP3 latent transforming growth factor beta binding protein 3
MBTD1 mbt domain containing 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MSGN1 mesogenin 1
MTA1 metastasis associated 1
MTF2 metal response element binding transcription factor 2
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDC1 NDC1 transmembrane nucleoporin
NDRG2 NDRG family member 2
NELL1 NEL-like 1 (chicken)
NKX3-2 NK3 homeobox 2
NOTO notochord homeobox
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NRARP NOTCH-regulated ankyrin repeat protein
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
PAX1 paired box 1
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
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PKDCC protein kinase domain containing, cytoplasmic
PNN pinin, desmosome associated protein
PPP5C protein phosphatase 5, catalytic subunit
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTK7 protein tyrosine kinase 7 (inactive)
PYY peptide YY
QRFPR pyroglutamylated RFamide peptide receptor
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RING1 ring finger protein 1
RIPPLY1 ripply transcriptional repressor 1
RNF2 ring finger protein 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHH sonic hedgehog
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC44A5 solute carrier family 44, member 5
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SP3 Sp3 transcription factor
SP8 Sp8 transcription factor
SPNS2 spinster homolog 2 (Drosophila)
SUMF1 sulfatase modifying factor 1
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TACC3 transforming, acidic coiled-coil containing protein 3
TAPT1 transmembrane anterior posterior transformation 1
TASP1 taspase, threonine aspartase, 1
TBX1 T-box 1
TBX15 T-box 15
TBX18 T-box 18
TBX6 T-box 6
TENM4 teneurin transmembrane protein 4
TERT telomerase reverse transcriptase
TM9SF4 transmembrane 9 superfamily protein member 4
TSHZ1 teashirt zinc finger homeobox 1
TWSG1 twisted gastrulation BMP signaling modulator 1
UBA2 ubiquitin-like modifier activating enzyme 2
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WNT3A wingless-type MMTV integration site family, member 3A
WNT7A wingless-type MMTV integration site family, member 7A
WNT9A wingless-type MMTV integration site family, member 9A
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZMPSTE24 zinc metallopeptidase STE24