rs377619533, ASXL3

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Decreased activity of mitochondrial complex I
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
0.700 GeneticVariation CLINVAR
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
0.700 GeneticVariation CLINVAR