aplasia/hypoplasia of the patella Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the patella. (Human Phenotype Ontology, HP_0006498)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006498
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Genes

28 genes associated with the aplasia/hypoplasia 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)
BHLHA9 basic helix-loop-helix family, member a9
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FKBP10 FK506 binding protein 10, 65 kDa
GDF5 growth differentiation factor 5
KAT6B K(lysine) acetyltransferase 6B
KIF22 kinesin family member 22
LMX1B LIM homeobox transcription factor 1, beta
MIPOL1 mirror-image polydactyly 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PITX1 paired-like homeodomain 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
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
TBX2 T-box 2
TBX4 T-box 4
WNT7A wingless-type MMTV integration site family, member 7A