short limbs Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced average length of the extremities (Mammalian Phenotype Ontology, MP_0000547)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000547
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Genes

80 gene mutations causing the short limbs phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ANO6 anoctamin 6
ARSB arylsulfatase B
ATF2 activating transcription factor 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN7 chloride channel, voltage-sensitive 7
COL11A1 collagen, type XI, alpha 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L2 cAMP responsive element binding protein 3-like 2
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EVX2 even-skipped homeobox 2
FGF9 fibroblast growth factor 9
FGFR3 fibroblast growth factor receptor 3
FMN1 formin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GUSB glucuronidase, beta
HOXD12 homeobox D12
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
IL6ST interleukin 6 signal transducer
IMPAD1 inositol monophosphatase domain containing 1
IRF6 interferon regulatory factor 6
KDF1 keratinocyte differentiation factor 1
KIF3A kinesin family member 3A
LRP6 low density lipoprotein receptor-related protein 6
MATN3 matrilin 3
MIA3 melanoma inhibitory activity family, member 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NOG noggin
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
PDS5B PDS5 cohesin associated factor B
PHEX phosphate regulating endopeptidase homolog, X-linked
PKDCC protein kinase domain containing, cytoplasmic
PRKG2 protein kinase, cGMP-dependent, type II
PRRX1 paired related homeobox 1
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RGS10 regulator of G-protein signaling 10
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SFN stratifin
SHH sonic hedgehog
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SP8 Sp8 transcription factor
SUMF1 sulfatase modifying factor 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNNT3 troponin T type 3 (skeletal, fast)
TRIP11 thyroid hormone receptor interactor 11
TWIST1 twist family bHLH transcription factor 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZEB1 zinc finger E-box binding homeobox 1