Congenital Central Hypoventilation Gene Set
Genes
28 genes associated with the disease Congenital Central Hypoventilation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
CREBBP
|
CREB binding protein
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EIF4E
|
eukaryotic translation initiation factor 4E
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
HPCAL1
|
hippocalcin-like 1
|
|
KCNK5
|
potassium channel, two pore domain subfamily K, member 5
|
|
MUL1
|
mitochondrial E3 ubiquitin protein ligase 1
|
|
MYO1H
|
myosin IH
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
PAG1
|
phosphoprotein membrane anchor with glycosphingolipid microdomains 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PCBP4
|
poly(rC) binding protein 4
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
RET
|
ret proto-oncogene
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
TLX1
|
T-cell leukemia homeobox 1
|
|
TLX2
|
T-cell leukemia homeobox 2
|
|
TLX3
|
T-cell leukemia homeobox 3
|
|
TRIM11
|
tripartite motif containing 11
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZNF645
|
zinc finger protein 645
|
