TRAF3IP2, TRAF3 interacting protein 2, 10758

N. diseases: 103; N. variants: 8
Disease: Capillary malformation (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.020 GeneticVariation disease BEFREE This is also the only second report of CMC due to ACT1 deficiency. 31292894 2019
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.020 GeneticVariation disease BEFREE We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC. 24120361 2013