Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878787
Disease: Growth failure
Growth failure
0.030 GeneticVariation phenotype BEFREE The frame shift mutation of ERCC6 found in this patient is a novel one, which caused postnatal growth failure and early death. 30113454 2018
CUI: C0878787
Disease: Growth failure
Growth failure
0.030 GeneticVariation phenotype BEFREE Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. 25251875 2014
CUI: C0878787
Disease: Growth failure
Growth failure
0.030 GeneticVariation phenotype BEFREE CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure. 22383384 2012