Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? 27928778

2017

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. 27426421

2016

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. 22797137

2013

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. 16055927

2006