Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124976
Gene Symbol: SPNS2
SPNS2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
Entrez Id: 124976
Gene Symbol: SPNS2
SPNS2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. 25356849

2014
Entrez Id: 124976
Gene Symbol: SPNS2
SPNS2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors. 19074308

2009