Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.300 Biomarker GENOMICS_ENGLAND Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms . 32004447

2020