SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Familial Hemiplegic Migraine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.010 GeneticVariation disease BEFREE Genetic analysis ruled out pathological mutations in the known genes for familial hemiplegic migraine, but identified a homozygous 65-bp deletion (Delta65bp) in the C terminus of NBCe1, corresponding to the codon change S982NfsX4. 20798035 2010