Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. 30142438 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE Mutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1A are responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). 19182766 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 Biomarker disease BEFREE Despite certain clinical characteristics, the genetic correlation between FHM and familial typical migraine remains unclear. 16157018 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 Biomarker disease BEFREE The diagnosis SCA6 was confirmed in 24 families comprising 30 familial and 4 sporadic cases. 11708993 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE It was concluded that Chr19 mutations either in the CACNL1A4 gene or a closely linked gene are implicated in some pedigrees with familial typical migraine, and that the disorder is genetically heterogeneous. 9596000 1998