Infantile Neuroaxonal Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. (Orphanet Rare Disease Ontology, Orphanet_35069)
External Link https://www.disgenet.org/browser/0/1/0/C0270724
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Genes

17 genes associated with the disease Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATP13A2 ATPase type 13A2
C19ORF12 chromosome 19 open reading frame 12
FA2H fatty acid 2-hydroxylase
FTL ferritin, light polypeptide
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
PANK1 pantothenate kinase 1
PANK2 pantothenate kinase 2
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLB1 phospholipase B1
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SNCA synuclein, alpha (non A4 component of amyloid precursor)
TECPR2 tectonin beta-propeller repeat containing 2
TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast)
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta