Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth Disease, Type Ia (disorder)
0.110 Biomarker disease BEFREE SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions and offers a new pathway to therapeutic interventions.ANN NEUROL 2019;85:316-330. 30706531 2019
Charcot-Marie-Tooth Disease, Type Ia (disorder)
0.110 GeneticVariation disease GWASCAT Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. 30706531 2019