bulbous nose Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased volume and globular shape of the anteroinferior aspect of the nose. (Human Phenotype Ontology, HP_0000414)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000414
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Genes

31 genes associated with the bulbous nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALG3 ALG3, alpha-1,3- mannosyltransferase
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAMTA1 calmodulin binding transcription activator 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CPT2 carnitine palmitoyltransferase 2
DOCK6 dedicator of cytokinesis 6
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBN1 fibrillin 1
FREM1 FRAS1 related extracellular matrix 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIF1BP KIF1 binding protein
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
MMP2 matrix metallopeptidase 2
PQBP1 polyglutamine binding protein 1
SATB2 SATB homeobox 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNIP1 Smad nuclear interacting protein 1
SRD5A3 steroid 5 alpha-reductase 3
TBC1D24 TBC1 domain family, member 24
TBX1 T-box 1
TWIST2 twist family bHLH transcription factor 2