Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR The MRG domain mediates the functional integration of MSL3 into the dosage compensation complex. 15988010

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. 16227571

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 12615169

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 12615169

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR DNA recognition by the methyl-CpG binding domain of MeCP2. 11035019

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR DNA recognition by the methyl-CpG binding domain of MeCP2. 11035019

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735

1993
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735

1993
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker HPO

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR

Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker HPO

Entrez Id: 7468
Gene Symbol: NSD2
NSD2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker HPO

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016