aplasia/hypoplasia of the earlobes Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the ear lobes. (Human Phenotype Ontology, HP_0009906)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009906
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Genes

27 genes associated with the aplasia/hypoplasia of the earlobes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
GP1BB glycoprotein Ib (platelet), beta polypeptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
KCTD1 potassium channel tetramerization domain containing 1
PCNT pericentrin
RBBP8 retinoblastoma binding protein 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TBX1 T-box 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)