Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
NALCN IAGP 12911215 RGD DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) NALCN IAGP 12914762 RGD DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) NALCN IAGP 7240710 OMIM NALCN EXP 11554173 CTD CTD Direct Evidence: marker/mechanism NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:29610177 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:30167850 PMID:30293248 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:30167850 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: NALCN-related condition PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:23749988 PMID:24075186 PMID:25533962 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:29168298 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:28492532 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism PMID:23749988 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 PMID:24075186 PMID:25741868 NALCN IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism PMID:24075186