abnormal levels of creatine kinase in blood Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0040081
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Genes

114 genes associated with the abnormal levels of creatine kinase in blood phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANO5 anoctamin 5
AR androgen receptor
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG3 BCL2-associated athanogene 3
C19ORF12 chromosome 19 open reading frame 12
CAPN3 calpain 3, (p94)
CAV3 caveolin 3
CHKB choline kinase beta
CNBP CCHC-type zinc finger, nucleic acid binding protein
COG8 component of oligomeric golgi complex 8
COL4A1 collagen, type IV, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A3 collagen, type IX, alpha 3
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DMD dystrophin
DMGDH dimethylglycine dehydrogenase
DNA2 DNA replication helicase/nuclease 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DOK7 docking protein 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DYSF dysferlin
EMD emerin
ENO3 enolase 3 (beta, muscle)
FAM111B family with sequence similarity 111, member B
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNC filamin C, gamma
GAA glucosidase, alpha; acid
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GMPPB GDP-mannose pyrophosphorylase B
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GOSR2 golgi SNAP receptor complex member 2
HINT1 histidine triad nucleotide binding protein 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
ISCU iron-sulfur cluster assembly enzyme
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LAMA2 laminin, alpha 2
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LMNA lamin A/C
LPIN1 lipin 1
MATR3 matrin 3
MGME1 mitochondrial genome maintenance exonuclease 1
MVK mevalonate kinase
MYF6 myogenic factor 6 (herculin)
MYH14 myosin, heavy chain 14, non-muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCRL oculocerebrorenal syndrome of Lowe
ORAI1 ORAI calcium release-activated calcium modulator 1
PGAM2 phosphoglycerate mutase 2 (muscle)
PGM1 phosphoglucomutase 1
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTRF polymerase I and transcript release factor
PYGM phosphorylase, glycogen, muscle
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SETX senataxin
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIL1 SIL1 nucleotide exchange factor
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
STIM1 stromal interaction molecule 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TCAP titin-cap
TFG TRK-fused gene
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TMEM165 transmembrane protein 165
TRAPPC11 trafficking protein particle complex 11
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSFM Ts translation elongation factor, mitochondrial
TTN titin
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
XK X-linked Kx blood group