Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Scoliosis, unspecified
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gait imbalance
|
0.700 | CausalMutation | CLINVAR | ||||||||
Intention tremor
|
0.700 | CausalMutation | CLINVAR | ||||||||
Breathing dysregulation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Loss of speech
|
0.700 | CausalMutation | CLINVAR | ||||||||
Generalized hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thyroiditis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Moderate global developmental delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Central hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Poor coordination
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic facies
|
0.700 | CausalMutation | CLINVAR | ||||||||
Appendicular hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Flatfoot
|
0.700 | CausalMutation | CLINVAR | ||||||||
Developmental regression
|
0.700 | CausalMutation | CLINVAR | ||||||||
Autistic Disorder
|
0.700 | CausalMutation | CLINVAR | ||||||||
Recurrent respiratory infections
|
0.700 | CausalMutation | CLINVAR | ||||||||
Mental Retardation, X-Linked, Syndromic 13
|
0.700 | CausalMutation | CLINVAR | ||||||||
Brisk reflexes
|
0.700 | CausalMutation | CLINVAR | ||||||||
Secondary microcephaly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cerebellar Ataxia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Maternal anticardiolipin antibody positive
|
0.700 | CausalMutation | CLINVAR | ||||||||
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Head titubation
|
0.700 | CausalMutation | CLINVAR | ||||||||
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
|
0.700 | CausalMutation | CLINVAR | Preserved speech variants of the Rett syndrome: molecular and clinical analysis. | 11746022 | 2001 |