CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.010 Biomarker disease BEFREE Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. 28150585 2017