abnormality of earlobe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the lobule of pinna. (Human Phenotype Ontology, HP_0000363)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000363
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Genes

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

Symbol Name
AHDC1 AT hook, DNA binding motif, containing 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDC6 cell division cycle 6
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CHD7 chromodomain helicase DNA binding protein 7
COL3A1 collagen, type III, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
DHCR24 24-dehydrocholesterol reductase
EFTUD2 elongation factor Tu GTP binding domain containing 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HRAS Harvey rat sarcoma viral oncogene homolog
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
KCTD1 potassium channel tetramerization domain containing 1
NOTCH2 notch 2
PCNT pericentrin
PHF6 PHD finger protein 6
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTCH1 patched 1
RBBP8 retinoblastoma binding protein 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC26A2 solute carrier family 26 (anion exchanger), member 2
TBX1 T-box 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZEB2 zinc finger E-box binding homeobox 2