rs267608327, MECP2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908 2010
Intention tremor
CUI: C4551520
Disease: Intention tremor
0.700 CausalMutation CLINVAR
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
0.700 CausalMutation CLINVAR
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759 2013
Loss of speech
CUI: C0542223
Disease: Loss of speech
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. 11913567 2002
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Thyroiditis
CUI: C0040147
Disease: Thyroiditis
0.700 CausalMutation CLINVAR
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071 2007
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. 14974082 2004
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578 2007
Poor coordination
CUI: C0563243
Disease: Poor coordination
0.700 CausalMutation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 CausalMutation CLINVAR
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
0.700 CausalMutation CLINVAR
Flatfoot
CUI: C0016202
Disease: Flatfoot
0.700 CausalMutation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. 12325033 2002
Recurrent respiratory infections
CUI: C3806482
Disease: Recurrent respiratory infections
0.700 CausalMutation CLINVAR
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110 2011