Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome
0.010 Biomarker disease BEFREE Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti. 28249776 2017