abnormality of the elbow Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the joint that connects the upper and the lower arm. (Human Phenotype Ontology, HP_0009811)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009811
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Genes

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

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BCOR BCL6 corepressor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CANT1 calcium activated nucleotidase 1
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
COMP cartilage oligomeric matrix protein
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CUL7 cullin 7
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DOK7 docking protein 7
ECEL1 endothelin converting enzyme-like 1
EMD emerin
ERCC1 excision repair cross-complementation group 1
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FBN2 fibrillin 2
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GPC6 glypican 6
GSC goosecoid homeobox
HDAC8 histone deacetylase 8
HOXA11 homeobox A11
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDUA iduronidase, alpha-L-
IFITM5 interferon induced transmembrane protein 5
KIF22 kinesin family member 22
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
NF1 neurofibromin 1
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
OBSL1 obscurin-like 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PITX1 paired-like homeodomain 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POR P450 (cytochrome) oxidoreductase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
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
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SRD5A3 steroid 5 alpha-reductase 3
TBX15 T-box 15
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TNXB tenascin XB
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I