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:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | ACAD8 CL E G H | 27034 | 87 | OMIM:611283 | Isobutyryl-CoA dehydrogenase deficiency | . | | | 58 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | ACAD8 CL E G H | 27034 | 87 | ORPHA:79159 | Isobutyryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 58 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 263 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 6 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | | | | 14 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | 101 | | |
HP:0003234 | HP:0003234 | Decreased plasma carnitine | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | | | |
HP:0003234 | HP:0011936 | Decreased plasma total carnitine | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003234 | HP:0011936 | Decreased plasma total carnitine | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0003234 | HP:0008315 | Decreased plasma free carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003234 | HP:0011936 | Decreased plasma total carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003234 | HP:0008315 | Decreased plasma free carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003234 | HP:0011936 | Decreased plasma total carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003234 | HP:0008315 | Decreased plasma free carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0003234 | HP:0011936 | Decreased plasma total carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0003234 | HP:0011936 | Decreased plasma total carnitine | 1 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0003234 | HP:0008315 | Decreased plasma free carnitine | 1 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0003234 | HP:0008315 | Decreased plasma free carnitine | 1 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |