SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.110 GeneticVariation disease BEFREE We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. 27569547 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.110 Biomarker disease HPO