Gene: SLC5A7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		0.110 GeneticVariation phenotype 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
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		0.110 Biomarker phenotype HPO