Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker HPO