ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Disease: SHASHI-PENA SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 27693232 2016
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 27693232 2016
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.400 CausalMutation disease CLINVAR