Mitochondria Phenome Knowledgebase

Gene Symbol DNAJC19
Ensembl ID ENSG00000205981 Entrez 131118
Gene Alias TIM14; TIMM14 Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 3q26.33 Subcell PMIDs 16055927
OMIM Gene 608977 Protein Complex Mitochondrial intermembrane space protein transporter complex
Swissprot ID Q96DA6 Swissprot Description Translocase of the inner mitochondrial membrane 14, isoform a
OMIM Disease Dilated cardiomyopathy with ataxia (DCMA) [608977]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
DNAJC19 608977 Digestive-system-diseases gastrointestinal #16055927
DNAJC19 608977 Liver-diseases gastrointestinal #16055927
DNAJC19 608977 Fatty-liver steatosis; microvesicular gastrointestinal 16055927
DNAJC19 608977 Liver-enzymes-abnormal ALT elevated; AST elevated; mildly elevation gastrointestinal 16055927
DNAJC19 608977 Nervous-system-diseases neurologic #16055927
DNAJC19 608977 Central-nervous-system-diseases neurologic #16055927
DNAJC19 608977 Brain-diseases neurologic #16055927
DNAJC19 608977 Seizures neurologic 16055927
DNAJC19 608977 Neurologic-manifestations neurologic #16055927
DNAJC19 608977 Ataxia cerebellar; cerebellar ataxia; non progressive neurologic 16055927
DNAJC19 608977 Neurobehavioral-manifestations neurologic #16055927
DNAJC19 608977 Mental-retardation borderline; mild neurologic 16055927
DNAJC19 608977 Developmental-delay motor delay neurologic 16055927
DNAJC19 608977 Eye-diseases ophthalmologic #16055927
DNAJC19 608977 Optic-nerve-diseases optic atrophy ophthalmologic 16055927
DNAJC19 608977 Genitourinary-diseases genitourinary #16055927
DNAJC19 608977 Urogenital-abnormalities genitourinary #16055927
DNAJC19 608977 Cryptorchidism male genital anomalies; isolated cryptorchidism genitourinary 16055927
DNAJC19 608977 Hypospadias hypospadia; perineal hypospadias genitourinary 16055927
DNAJC19 608977 Cardiovascular-diseases cardiovascular #16055927
DNAJC19 608977 Congenital-heart-defects atrial septal defect; ASD cardiovascular 16055927
DNAJC19 608977 Heart-diseases cardiovascular #16055927
DNAJC19 608977 Arrhythmia conduction defects; long QT syndrome; prolonged QT interval; EKG abnormal cardiovascular 16055927
DNAJC19 608977 Cardiomyopathy dilated cardiovascular 16055927
DNAJC19 608977 Cardiorespiratory-arrest sudden death; sudden cardiac death; cardiac failure cardiovascular 16055927
DNAJC19 608977 Hematologic-diseases hematologic #16055927
DNAJC19 608977 Anemia microcytic; normochromic hematologic 16055927
DNAJC19 608977 Metabolic-diseases metabolic #16055927
DNAJC19 608977 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 16055927
DNAJC19 608977 Methylglutaconic-aciduria 3 methylglutaconic acid elevated metabolic 16055927
DNAJC19 608977 Endocrine-system-diseases endocrinologic #16055927
DNAJC19 608977 Gonadal-disorders endocrinologic #16055927
DNAJC19 608977 Hypogonadism hypogonadism; testicular dysgenesis; testicular atrophy; Mullerian remnants endocrinologic 16055927
DNAJC19 608977 Hypoandrogenism testosteron decreased; incomplete testosterone rise after hCG stimulation; hCG response abnormal endocrinologic 16055927
DNAJC19 608977 Thyroid-diseases endocrinologic #16055927
DNAJC19 608977 Hypothyroidism endocrinologic 16055927
DNAJC19 608977 Growth-disorders miscellaneous #16055927
DNAJC19 608977 Growth-deficiency short stature; postnatal; prenatal; intrauterine growth deficiency miscellaneous 16055927
DNAJC19 608977 Dysmorphism-and-abnormalities malformations; diaphragma abnormal; diaphragmatic eventration; arachnoid cysts; mullerian remnants miscellaneous 16055927

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