Source: CLINVAR

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: 23141
Gene Symbol: ANKLE2
ANKLE2 		ankyrin repeat and LEM domain containing 2 0.691 0.500 1.0E-10
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2