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:0000338 | HP:0000338 | Hypomimic face | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | CC2D1A CL E G H | 54862 | 30237 | OMIM:608443 | Mental retardation, autosomal recessive 3 | . | | | 57 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | | | | 6 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | . | | | 3 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | | | | 2 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040282 - Frequent | | | 13 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | HP:0040282 - Frequent | | | 28 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040282 - Frequent | | | 39 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000338 | HP:0000338 | Hypomimic face | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |