SIM1, SIM bHLH transcription factor 1, 6492

N. diseases: 84; N. variants: 11
Disease: Congenital fusion of ribs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		0.010 AlteredExpression disease BEFREE Severe skeletal defects, including craniofacial abnormalities, disrupted ossification, and rib fusions are also observed, attributable to lack of skeletal muscles as well as patchy Sim1-Cre activity in the embryonic sclerotome. 30801883 2019