SLC7A7, solute carrier family 7 member 7, 9056

N. diseases: 122; N. variants: 53
Disease: Hepatosplenomegaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.110 GeneticVariation phenotype BEFREE Mutations in the solute carrier family 7, member 7, SLC7A7, gene cause this multisystemic disease with a variety of clinical symptoms such as hepatosplenomegaly, osteoporosis, hypotonia, developmental delay, pulmonary insufficiency or end-stage renal disease. 23542076 2013
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.110 Biomarker phenotype HPO