abnormal diaphragm morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control (Mammalian Phenotype Ontology, MP_0002279)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002279
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63 gene mutations causing the abnormal diaphragm morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM19 ADAM metallopeptidase domain 19
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
BARX2 BARX homeobox 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN3 calpain 3, (p94)
CHAT choline O-acetyltransferase
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP3 CAP-GLY domain containing linker protein 3
COL6A1 collagen, type VI, alpha 1
DES desmin
DMD dystrophin
DNASE2 deoxyribonuclease II, lysosomal
DOCK1 dedicator of cytokinesis 1
ECEL1 endothelin converting enzyme-like 1
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFRL1 fibroblast growth factor receptor-like 1
FLNC filamin C, gamma
FREM1 FRAS1 related extracellular matrix 1
FUZ fuzzy planar cell polarity protein
GAB1 GRB2-associated binding protein 1
GATA4 GATA binding protein 4
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HLX H2.0-like homeobox
HOXB4 homeobox B4
IGHMBP2 immunoglobulin mu binding protein 2
ILF3 interleukin enhancer binding factor 3, 90kDa
ITGA7 integrin, alpha 7
KIF7 kinesin family member 7
KL klotho
LARGE like-glycosyltransferase
LMNA lamin A/C
LMNB1 lamin B1
LOX lysyl oxidase
LRP1 low density lipoprotein receptor-related protein 1
MET MET proto-oncogene, receptor tyrosine kinase
MNX1 motor neuron and pancreas homeobox 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYOG myogenin (myogenic factor 4)
MYT1 myelin transcription factor 1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NRG1 neuregulin 1
PAX3 paired box 3
PAX7 paired box 7
PBX1 pre-B-cell leukemia homeobox 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RYR1 ryanodine receptor 1 (skeletal)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIX1 SIX homeobox 1
SLIT3 slit homolog 3 (Drosophila)
SNAP25 synaptosomal-associated protein, 25kDa
SOX7 SRY (sex determining region Y)-box 7
STAC3 SH3 and cysteine rich domain 3
TGFB1 transforming growth factor, beta 1
TNNT3 troponin T type 3 (skeletal, fast)
TTN titin
WDR35 WD repeat domain 35
WT1 Wilms tumor 1
ZFPM2 zinc finger protein, FOG family member 2