rs796052243, SPATA5

N. diseases: 54
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
CUI: C4225276
Disease: 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
CUI: C4225276
Disease: 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
CUI: C4225276
Disease: 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
CUI: C4225276
Disease: 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