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
Intention tremor
CUI: C4551520
Disease: Intention tremor
0.700 CausalMutation CLINVAR
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
0.700 CausalMutation CLINVAR
Loss of speech
CUI: C0542223
Disease: Loss of speech
0.700 CausalMutation CLINVAR
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
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
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
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
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
0.700 CausalMutation CLINVAR
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
0.700 CausalMutation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 CausalMutation CLINVAR
Maternal anticardiolipin antibody positive
CUI: C4022860
Disease: Maternal anticardiolipin antibody positive
0.700 CausalMutation CLINVAR
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
0.700 CausalMutation CLINVAR
Head titubation
CUI: C1608410
Disease: Head titubation
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 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 11746022 2001