Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 GeneticVariation phenotype BEFREE Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. 28345786 2017
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 GeneticVariation phenotype BEFREE Although deletions of CHRNA7 have been associated with intellectual disability (ID), seizures and neuropsychiatric phenotypes, the pathogenicity of CHRNA7 duplications has been uncertain. 24424125 2014
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 GeneticVariation phenotype BEFREE Absence of the Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene product is proposed as a possible mechanism for the severe visual impairment; absence of CHRNA7 (alpha7-nicotinic receptor subunit) as a cause of the refractory seizures and severe cognitive impairment; and deletion of MTMR10 and/or MTMR15 (encoding myotubularin related proteins) alone or combined with other homozygously deleted genes as a cause for the congenital hypotonia with areflexia. 20425840 2010
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype BEFREE The BP4-BP5 deletion and duplication events span CHRNA7, a candidate gene for seizures. 18805830 2009
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype CTD_human Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures. 14996991 2004
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype CTD_human Increased sensitivity to nicotine-induced seizures in mice heterozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor. 11893908 2002
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype CTD_human Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors. 10942032 2000
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype CTD_human Pharmacological characterization of nicotine-induced seizures in mice. 10565853 1999
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype CTD_human Sensitivity to the seizure-inducing effects of nicotine is associated with strain-specific variants of the alpha 5 and alpha 7 nicotinic receptor subunit genes. 9495872 1998
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.440 Biomarker phenotype HPO