Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
CUI: C3806634
Disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION 		0.600 Biomarker GENOMICS_ENGLAND Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. 24011989

2013
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
CUI: C3806634
Disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION 		0.600 GermlineCausalMutation ORPHANET Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. 24011989

2013
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
CUI: C3806634
Disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION 		0.600 Biomarker GENOMICS_ENGLAND Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. 24011989

2013
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
CUI: C3806634
Disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION 		0.600 CausalMutation CLINVAR

Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
CUI: C3806634
Disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION 		0.600 Biomarker GENOMICS_ENGLAND