Source: HPO

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: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.120 None 1.000 0 0 2013 2019
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.100 None 0 0
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0