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: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		disease 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0003635
Disease: Apraxias
Apraxias 		group 0.100 None 0 1