abnormality of the choanae Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the choanae (the posterior nasal apertures). (Human Phenotype Ontology, HP_0000415)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000415
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Genes

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

Symbol Name
ANTXR1 anthrax toxin receptor 1
BCR breakpoint cluster region
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CHD7 chromodomain helicase DNA binding protein 7
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
EFTUD2 elongation factor Tu GTP binding domain containing 2
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXE1 forkhead box E1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
HDAC8 histone deacetylase 8
HOXD13 homeobox D13
IGBP1 immunoglobulin (CD79A) binding protein 1
IRF6 interferon regulatory factor 6
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
NBN nibrin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
PTPN14 protein tyrosine phosphatase, non-receptor type 14
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHH sonic hedgehog
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOST sclerostin
SPINT2 serine peptidase inhibitor, Kunitz type, 2
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TP63 tumor protein p63
WNT3 wingless-type MMTV integration site family, member 3
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335