Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052243
rs796052243
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		T 0.700 GeneticVariation CLINVAR Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. 28293831

2017
dbSNP: rs796052243
rs796052243
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		T 0.700 GeneticVariation CLINVAR Characterization of SPATA5-related encephalopathy in early childhood. 27246907

2016
dbSNP: rs796052243
rs796052243
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		T 0.700 GeneticVariation CLINVAR SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. 27683084

2016
dbSNP: rs796052243
rs796052243
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		T 0.700 GeneticVariation CLINVAR Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 26299366

2015