Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10758
Gene Symbol: TRAF3IP2
TRAF3IP2
0.020 GeneticVariation disease BEFREE This is also the only second report of CMC due to ACT1 deficiency. 31292894 2019
Entrez Id: 10758
Gene Symbol: TRAF3IP2
TRAF3IP2
0.020 GeneticVariation disease BEFREE We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC. 24120361 2013