rs267608327, MECP2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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