| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
|
0.700 | GeneticVariation | CLINVAR | Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. | 28293831 | 2017 | |||||
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
|
0.700 | GeneticVariation | CLINVAR | Characterization of SPATA5-related encephalopathy in early childhood. | 27246907 | 2016 | |||||
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
|
0.700 | GeneticVariation | CLINVAR | SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. | 27683084 | 2016 | |||||
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
|
0.700 | GeneticVariation | CLINVAR | Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. | 26299366 | 2015 | |||||
Highly arched eyebrow
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Narrow thorax
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Tapering fingers (finding)
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Dyskinetic syndrome
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Generalized hypotonia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Pediatric failure to thrive
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Abnormality of mitochondrial metabolism
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Labial hypoplasia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Open mouth (finding)
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Stereotypic Movement Disorder
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Reduced fetal movement
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Cortical visual impairment
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Immunoglobulin G subclass deficiency (finding)
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Cerebral atrophy
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Infantile Spasm
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Depressed nasal bridge
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Minimal subcutaneous fat
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Muscle Spasticity
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Electroencephalogram abnormal
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hair whorls
|
0.700 | GeneticVariation | CLINVAR |