Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
0.100 CausalMutation disease CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
0.100 Biomarker disease HPO