Asphyxia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1970005
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Genes

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

Symbol Name
ADM adrenomedullin
APC adenomatous polyposis coli
AVP arginine vasopressin
B2M beta-2-microglobulin
BBS10 Bardet-Biedl syndrome 10
BIN1 bridging integrator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAT catalase
CDK13 cyclin-dependent kinase 13
CDKL5 cyclin-dependent kinase-like 5
COL1A1 collagen, type I, alpha 1
DNM2 dynamin 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
ENO2 enolase 2 (gamma, neuronal)
EPO erythropoietin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FBN1 fibrillin 1
FGF2 fibroblast growth factor 2 (basic)
FLT1 fms-related tyrosine kinase 1
GFAP glial fibrillary acidic protein
HTRA2 HtrA serine peptidase 2
IFT140 intraflagellar transport 140
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IL6 interleukin 6
KDR kinase insert domain receptor
KISS1 KiSS-1 metastasis-suppressor
LCN2 lipocalin 2
MAP2 microtubule-associated protein 2
MTMR14 myotubularin related protein 14
MYF6 myogenic factor 6 (herculin)
NEFL neurofilament, light polypeptide
NEK1 NIMA-related kinase 1
PDIA3 protein disulfide isomerase family A, member 3
POLR1C polymerase (RNA) I polypeptide C, 30kDa
PSEN1 presenilin 1
PSEN2 presenilin 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RUNX3 runt-related transcription factor 3
RYR1 ryanodine receptor 1 (skeletal)
SHPK sedoheptulokinase
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
TCTEX1D2 Tctex1 domain containing 2
TH tyrosine hydroxylase
TMEM256 transmembrane protein 256
TSLIG3C tRNA splicing ligase complex subunit 3C
TTC21B tetratricopeptide repeat domain 21B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VEGFA vascular endothelial growth factor A
WDR35 WD repeat domain 35
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1