Disease: Jarcho-Levin syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.420 GeneticVariation disease BEFREE This is the second report of LFNG mutations in SCDO. 30531807 2019
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.420 GeneticVariation disease BEFREE A LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. 30196550 2018
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.420 CausalMutation disease CLINVAR