Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 Biomarker GENOMICS_ENGLAND Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). 28293831

2017
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 Biomarker GENOMICS_ENGLAND Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). 28293831

2017
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 Biomarker GENOMICS_ENGLAND Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 26299366

2015
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 GermlineCausalMutation ORPHANET Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 26299366

2015
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 GeneticVariation UNIPROT Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 26299366

2015
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.710 Biomarker CTD_human