Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201093713
rs201093713
PAX8 ; PAX8-AS1
0.010 GeneticVariation BEFREE We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). 28954305

2018
dbSNP: rs140856315
rs140856315
CDCA8
0.010 GeneticVariation BEFREE We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the BOREALIN gene in TD-affected families. 28025328

2017
dbSNP: rs35565540
rs35565540
CDCA8
0.010 GeneticVariation BEFREE We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the BOREALIN gene in TD-affected families. 28025328

2017
dbSNP: rs137852685
rs137852685
NKX2-5
0.010 GeneticVariation BEFREE NKX2-5 mutational screening in 241 patients with TD allowed the identification of three heterozygous missense changes (R25C, A119S, and R161P) in four patients with TD. 16418214

2006
dbSNP: rs28936670
rs28936670
NKX2-5
0.010 GeneticVariation BEFREE NKX2-5 mutational screening in 241 patients with TD allowed the identification of three heterozygous missense changes (R25C, A119S, and R161P) in four patients with TD. 16418214

2006