Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 GeneticVariation disease BEFREE This study adds to mutation spectrum of LGI4 and reports the second case of mild AMC with extended phenotype. 31513940 2020
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease GENOMICS_ENGLAND This is consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral hypomyelination. 28318499 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease BEFREE This is consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral hypomyelination. 28318499 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease GENOMICS_ENGLAND The claw paw mutation reveals a role for Lgi4 in peripheral nerve development. 16341215 2006
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease GENOMICS_ENGLAND The claw paw mutation reveals a role for Lgi4 in peripheral nerve development. 16341215 2006
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease HPO