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: 27292
Gene Symbol: DIMT1
DIMT1 		DIMT1 rRNA methyltransferase and ribosome maturation factor 0.760 0.385 3.9E-07
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease 0.100 None 0 1
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A 		kinesin family member 2A 0.590 0.731 1.00
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease 0.100 None 0 1