Genu Recurvatum Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormally increased extension of the knee joint, so that the knee can bend backwards. (Human Phenotype Ontology, HP_0002816)
External Link https://www.disgenet.org/browser/0/1/0/C0546964
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Genes

31 genes associated with the disease Genu Recurvatum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACLY ATP citrate lyase
ADRB2 adrenoceptor beta 2, surface
ANO5 anoctamin 5
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
CANT1 calcium activated nucleotidase 1
CDT1 chromatin licensing and DNA replication factor 1
COL1A2 collagen, type I, alpha 2
COL5A1 collagen, type V, alpha 1
COMP cartilage oligomeric matrix protein
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FTO fat mass and obesity associated
GRIA3 glutamate receptor, ionotropic, AMPA 3
HRAS Harvey rat sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LTBP4 latent transforming growth factor beta binding protein 4
MAN1B1 mannosidase, alpha, class 1B, member 1
MCOLN1 mucolipin 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PHIP pleckstrin homology domain interacting protein
PTEN phosphatase and tensin homolog
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
TMEM256 transmembrane protein 256
TRIP11 thyroid hormone receptor interactor 11
XYLT1 xylosyltransferase I