Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.130 GeneticVariation disease 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: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.130 GeneticVariation disease BEFREE Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. 25251875 2014
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.130 GeneticVariation disease BEFREE CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure. 22383384 2012
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.130 Biomarker disease HPO