Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 57176
Gene Symbol: VARS2
VARS2 		valyl-tRNA synthetase 2, mitochondrial 0.666 0.577 5.8E-17
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 57176
Gene Symbol: VARS2
VARS2 		valyl-tRNA synthetase 2, mitochondrial 0.666 0.577 5.8E-17
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0