abnormality of the musculature of the neck Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the neck musculature. (Human Phenotype Ontology, HP_0011006)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011006
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Genes

48 genes associated with the abnormality of the musculature of the neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ANO3 anoctamin 3
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
CAV3 caveolin 3
CFL2 cofilin 2 (muscle)
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
CP ceruloplasmin (ferroxidase)
CRYAB crystallin, alpha B
DES desmin
DRD2 dopamine receptor D2
GCH1 GTP cyclohydrolase 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
LMNA lamin A/C
MAPT microtubule-associated protein tau
MEOX1 mesenchyme homeobox 1
MTM1 myotubularin 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
PABPN1 poly(A) binding protein, nuclear 1
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA2 patatin-like phospholipase domain containing 2
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
SCP2 sterol carrier protein 2
SGCE sarcoglycan, epsilon
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TGM6 transglutaminase 6
THAP1 THAP domain containing, apoptosis associated protein 1
TMEM43 transmembrane protein 43
TOR1A torsin family 1, member A (torsin A)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TUBB4A tubulin, beta 4A class IVa