Disease Term Disease ID Gene Symbol Classification References Source
Cutis laxa, x-linked C0268353 ATP7A Causal Pathogenic evidence from ClinVar 9246006, 11431706, 15372525, 17108763, 20170900, 21667063, 23035047 ClinVar
PGK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -