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: 80000
Gene Symbol: GREB1L
GREB1L
GREB1 like retinoic acid receptor coactivator 0.686 0.423 1.00
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
disease 0.600 strong 1.000 0 13 2017 2017
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L
GREB1 like retinoic acid receptor coactivator 0.686 0.423 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L
GREB1 like retinoic acid receptor coactivator 0.686 0.423 1.00
CUI: C4231418
Disease: Inner ear malformation
Inner ear malformation
phenotype 0.100 None 0 2