rs121908211, CACNA1A

N. diseases: 5
Disease: Familial Hemiplegic Migraine ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
0.030 GeneticVariation BEFREE Transgenic mice carrying the R192Q missense mutation in the Cacna1a gene, which in patients causes familial hemiplegic migraine type 1 (FHM1), exhibit increased propensity to CSD. 25877011 2015
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
0.030 GeneticVariation BEFREE Effects of LPS on P2X3 receptors of trigeminal sensory neurons and macrophages from mice expressing the R192Q Cacna1a gene mutation of familial hemiplegic migraine-1. 22836594 2013
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
0.030 GeneticVariation BEFREE Previously, we generated mice carrying the R192Q mutation, associated with human familial hemiplegic migraine type-1, and showed first evidence of enhanced presynaptic Ca(2+) influx [Neuron 41 (2004) 701]. 16111830 2005