abnormality of circulating protein level Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010876
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Genes

150 genes associated with the abnormality of circulating protein level 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
ACTN4 actinin, alpha 4
ADCK4 aarF domain containing kinase 4
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANO5 anoctamin 5
APTX aprataxin
AR androgen receptor
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ATM ATM serine/threonine kinase
B2M beta-2-microglobulin
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG3 BCL2-associated athanogene 3
BMPR1A bone morphogenetic protein receptor, type IA
C19ORF12 chromosome 19 open reading frame 12
CAPN3 calpain 3, (p94)
CAV3 caveolin 3
CCBE1 collagen and calcium binding EGF domains 1
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)
DCLRE1C DNA cross-link repair 1C
DGAT1 diacylglycerol O-acyltransferase 1
DGUOK deoxyguanosine kinase
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
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
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)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
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
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGB4 integrin, beta 4
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
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
MKS1 Meckel syndrome, type 1
MPI mannose phosphate isomerase
MVK mevalonate kinase
MYF6 myogenic factor 6 (herculin)
MYH14 myosin, heavy chain 14, non-muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYO1E myosin IE
MYOT myotilin
NEB nebulin
NLRP12 NLR family, pyrin domain containing 12
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
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)
PLCE1 phospholipase C, epsilon 1
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMM2 phosphomannomutase 2
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
PRF1 perforin 1 (pore forming protein)
PRSS1 protease, serine, 1 (trypsin 1)
PTPRO protein tyrosine phosphatase, receptor type, O
PTRF polymerase I and transcript release factor
PYGM phosphorylase, glycogen, muscle
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RYR1 ryanodine receptor 1 (skeletal)
SAR1B secretion associated, Ras related GTPase 1B
SCN4A sodium channel, voltage gated, type IV alpha subunit
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
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
SMAD4 SMAD family member 4
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
TF transferrin
TFG TRK-fused gene
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TMEM165 transmembrane protein 165
TMPRSS15 transmembrane protease, serine 15
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
TTC37 tetratricopeptide repeat domain 37
TTN titin
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
XK X-linked Kx blood group