Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040282 - Frequent | | | 74 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:616045 | Combined oxidative phosphorylation deficiency 22 | . | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040284 - Very rare | | | 64 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | MIPEP CL E G H | 4285 | 7104 | OMIM:617228 | Combined oxidative phosphorylation deficiency 31 | . | | | 7 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | MTO1 CL E G H | 25821 | 19261 | OMIM:614702 | Combined oxidative phosphorylation deficiency 10 | HP:0040283 - Occasional | | | 39 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0003348 | HP:0003348 | Hyperalaninemia | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |