Source: ORPHANET

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: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome
disease 0.980 None 1.000 1 0 2007 2019
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome
disease 0.320 None 1.000 1 0 2017 2019