SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 28679690 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO