Flexion Contracture - Elbow Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0409338
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Genes

72 genes associated with the disease Flexion Contracture - Elbow in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ADSSL1 adenylosuccinate synthase like 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ANO5 anoctamin 5
ANTXR2 anthrax toxin receptor 2
ATR ATR serine/threonine kinase
B3GAT3 beta-1,3-glucuronyltransferase 3
BGN biglycan
CAPN3 calpain 3, (p94)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL12A1 collagen, type XII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CPT2 carnitine palmitoyltransferase 2
CRLF1 cytokine receptor-like factor 1
DDR2 discoidin domain receptor tyrosine kinase 2
ECEL1 endothelin converting enzyme-like 1
EMD emerin
ERCC6 excision repair cross-complementation group 6
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBN2 fibrillin 2
FHL1 four and a half LIM domains 1
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
GJB2 gap junction protein, beta 2, 26kDa
HACD1 3-hydroxyacyl-CoA dehydratase 1
IRF2BPL interferon regulatory factor 2 binding protein-like
ITGA7 integrin, alpha 7
KIAA0226 KIAA0226
KY kyphoscoliosis peptidase
LARGE like-glycosyltransferase
LGI4 leucine-rich repeat LGI family, member 4
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NALCN sodium leak channel, non selective
NIPBL Nipped-B homolog (Drosophila)
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PITX1 paired-like homeodomain 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PSEN1 presenilin 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
ROM1 retinal outer segment membrane protein 1
SCARF2 scavenger receptor class F, member 2
SELENON selenoprotein N
SIK3 SIK family kinase 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC39A8 solute carrier family 39 (zinc transporter), member 8
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SPRTN SprT-like N-terminal domain
SRD5A3 steroid 5 alpha-reductase 3
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TBX15 T-box 15
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM43 transmembrane protein 43
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT7A wingless-type MMTV integration site family, member 7A