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:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | ATP5F1E CL E G H | 514 | 838 | OMIM:614053 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 | . | | | | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040281 - Very frequent | | | 49 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040281 - Very frequent | | | 38 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040281 - Very frequent | | | 25 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | MICOS13 CL E G H | 125988 | 33702 | ORPHA:67047 | 3-methylglutaconic aciduria type 3 | HP:0040281 - Very frequent | | | | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67047 | 3-methylglutaconic aciduria type 3 | HP:0040281 - Very frequent | | | 163 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:258501 | 3-methylglutaconic aciduria, type III | | | | 163 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040281 - Very frequent | | | 60 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040281 - Very frequent | | | 1 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0003535 | HP:0003535 | 3-Methylglutaconic aciduria | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040281 - Very frequent | | | 63 | | |