abnormality of the patella Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the patella (knee cap). (Human Phenotype Ontology, HP_0003045)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003045
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Genes

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

Symbol Name
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BHLHA9 basic helix-loop-helix family, member a9
CANT1 calcium activated nucleotidase 1
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBN2 fibrillin 2
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIRA histone cell cycle regulator
IMPAD1 inositol monophosphatase domain containing 1
KAT6B K(lysine) acetyltransferase 6B
KIF22 kinesin family member 22
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
MIPOL1 mirror-image polydactyly 1
NOTCH2 notch 2
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PITX1 paired-like homeodomain 1
RAB23 RAB23, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
SHOX short stature homeobox
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOX11 SRY (sex determining region Y)-box 11
TBC1D7 TBC1 domain family, member 7
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
UFD1L ubiquitin fusion degradation 1 like (yeast)
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I