Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
0.050 GeneticVariation BEFREE The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma. 31200374

2019

dbSNP: rs113488022
rs113488022
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
0.050 GeneticVariation BEFREE BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR. 30074466

2018

dbSNP: rs113488022
rs113488022
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
0.050 GeneticVariation BEFREE BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP. 29509940

2018

dbSNP: rs113488022
rs113488022
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
0.050 GeneticVariation BEFREE In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing. 28840946

2018

dbSNP: rs113488022
rs113488022
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
0.050 GeneticVariation BEFREE The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. 27903124

2016