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GENE - TERM ANNOTATION REPORT

RGD ID: 733715
Species: Homo sapiens
RGD Object: Gene
Symbol: NALCN
Name: sodium leak channel, non-selective
Acc ID: DOID:9008988
Term: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1
Definition: null
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
NALCN IAGP 12911215RGDDNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) 
NALCN IAGP 12914762RGDDNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) 
NALCN IAGP 7240710OMIM  
NALCN EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:29610177
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:30167850 PMID:30293248
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:30167850
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NALCN-related conditionPMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:23749988 PMID:24075186 PMID:25533962 PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868 PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:29168298
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:28492532
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphismPMID:23749988
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1PMID:24075186 PMID:25741868
NALCN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphismPMID:24075186
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