Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 137392
Gene Symbol: FAM92A
FAM92A
0.510 Biomarker disease CTD_human Exome sequencing revealed a homozygous nonsense variant (c.478C>T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. 30395363 2019
Entrez Id: 137392
Gene Symbol: FAM92A
FAM92A
0.510 GermlineCausalMutation disease ORPHANET Exome sequencing revealed a homozygous nonsense variant (c.478C>T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. 30395363 2019
Entrez Id: 137392
Gene Symbol: FAM92A
FAM92A
0.510 GeneticVariation disease BEFREE Exome sequencing revealed a homozygous nonsense variant (c.478C>T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. 30395363 2019