Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016