Hypothalamic Hamartomas Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0342418
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Genes

29 genes associated with the disease Hypothalamic Hamartomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADARB1 adenosine deaminase, RNA-specific, B1
BDNF brain-derived neurotrophic factor
C5ORF42 chromosome 5 open reading frame 42
FAM149B1 family with sequence similarity 149, member B1
GJA1 gap junction protein, alpha 1, 43kDa
GJD2 gap junction protein, delta 2, 36kDa
GLI3 GLI family zinc finger 3
KIAA0753 KIAA0753
KIF7 kinesin family member 7
LRP2 low density lipoprotein receptor-related protein 2
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MCF2L MCF.2 cell line derived transforming sequence-like
NUP98 nucleoporin 98kDa
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PLCG1 phospholipase C, gamma 1
POU3F4 POU class 3 homeobox 4
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
SIX6 SIX homeobox 6
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6
SMO smoothened, frizzled class receptor
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOX2 SRY (sex determining region Y)-box 2
TCTN3 tectonic family member 3
TGFA transforming growth factor, alpha
TMEM216 transmembrane protein 216