aplasia/hypoplasia of the external ear Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of aplasia or developmental hypoplasia of all or part of the external ear. (Human Phenotype Ontology, HP_0008772)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008772
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Genes

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

Symbol Name
ABHD5 abhydrolase domain containing 5
AMER1 APC membrane recruitment protein 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHUK conserved helix-loop-helix ubiquitous kinase
DCHS1 dachsous cadherin-related 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GLI3 GLI family zinc finger 3
HOXA2 homeobox A2
ISPD isoprenoid synthase domain containing
KCTD1 potassium channel tetramerization domain containing 1
LMBRD1 LMBR1 domain containing 1
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
NIN ninein (GSK3B interacting protein)
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PLEC plectin
POC1A POC1 centriolar protein A
POMT1 protein-O-mannosyltransferase 1
RBM10 RNA binding motif protein 10
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SMAD4 SMAD family member 4
TBX15 T-box 15
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TP63 tumor protein p63
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1