Phenotype: Proximal tubulopathy (HP:0000114)
Associated genes and diseases:
gene_symbol: MPI
disease_id: OMIM:602579
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: HBB
disease_id: ORPHA:231222
disease_name: Beta-thalassemia intermedia
gene_symbol: NDUFB11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TIMMDC1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB10
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: FOXRED1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TMEM126B
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF5
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NUBPL
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS7
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB9
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: OCRL
disease_id: OMIM:300555
disease_name: DENT DISEASE 2
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: CLCN5
disease_id: OMIM:300554
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
gene_symbol: CLCN5
disease_id: OMIM:300009
disease_name: DENT DISEASE 1
gene_symbol: CLCN5
disease_id: OMIM:310468
disease_name: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: RRM2B
disease_id: OMIM:612075
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: SLC34A1
disease_id: OMIM:613388
disease_name: FANCONI RENOTUBULAR SYNDROME 2
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME