Choanal Atresia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_9574)
External Link https://www.disgenet.org/browser/0/1/0/C0008297
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Genes

104 genes associated with the disease Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ANTXR1 anthrax toxin receptor 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BCR breakpoint cluster region
BPTF bromodomain PHD finger transcription factor
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CDC45 cell division cycle 45
CDON cell adhesion associated, oncogene regulated
CHD7 chromodomain helicase DNA binding protein 7
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
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
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXE1 forkhead box E1
FOXH1 forkhead box H1
GAS1 growth arrest-specific 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
IGBP1 immunoglobulin (CD79A) binding protein 1
IRF6 interferon regulatory factor 6
ITCH itchy E3 ubiquitin protein ligase
JMJD1C jumonji domain containing 1C
KMT2A lysine (K)-specific methyltransferase 2A
LMNA lamin A/C
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
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)
NODAL nodal growth differentiation factor
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
POLR1A polymerase (RNA) I polypeptide A, 194kDa
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
PTPN14 protein tyrosine phosphatase, non-receptor type 14
RAD21 RAD21 homolog (S. pombe)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RDH10 retinol dehydrogenase 10 (all-trans)
RFWD3 ring finger and WD repeat domain 3
RPL11 ribosomal protein L11
RREB1 ras responsive element binding protein 1
SALL4 spalt-like transcription factor 4
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETD5 SET domain containing 5
SHH sonic hedgehog
SIX3 SIX homeobox 3
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SUFU suppressor of fused homolog (Drosophila)
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TDGF1 teratocarcinoma-derived growth factor 1
TGIF1 TGFB-induced factor homeobox 1
TP63 tumor protein p63
TTF2 transcription termination factor, RNA polymerase II
TWIST1 twist family bHLH transcription factor 1
TXNL4A thioredoxin-like 4A
UBE2T ubiquitin-conjugating enzyme E2T
UFD1 ubiquitin recognition factor in ER associated degradation 1
USP9X ubiquitin specific peptidase 9, X-linked
WNT3 wingless-type MMTV integration site family, member 3
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335