Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.120 Biomarker phenotype BEFREE The results confirm that dopaminergic dysfunction in RTT is also present in Mecp2-deficient mice and that reductions in D<sub>2</sub>R more likely explain the impaired ambulation and progressive rigidity observed rather than alterations in DAT. 29782864 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.120 GeneticVariation phenotype BEFREE Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 20142466 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.120 Biomarker phenotype HPO