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:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040282 - Frequent | | | 143 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031434 | Abnormal speech prosody | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0031434 | HP:0031436 | Increased pitch variability of speech | 1 | CL E G H | | | | | | | | | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0031434 | HP:0031435 | Monotonic speech | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |