abnormal z lines Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere (Mammalian Phenotype Ontology, MP_0004091)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004091
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Genes

19 gene mutations causing the abnormal z lines phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BCAR1 breast cancer anti-estrogen resistance 1
BIN1 bridging integrator 1
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALR calreticulin
COL13A1 collagen, type XIII, alpha 1
DMPK dystrophia myotonica-protein kinase
DST dystonin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
GAA glucosidase, alpha; acid
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
KALRN kalirin, RhoGEF kinase
LDB3 LIM domain binding 3
MED30 mediator complex subunit 30
MTM1 myotubularin 1
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NEB nebulin
PDLIM5 PDZ and LIM domain 5
RYR1 ryanodine receptor 1 (skeletal)
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1