Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | . | | | 2 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:127750 | Dementia, lewy body | . | | | | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:127750 | Dementia, lewy body | . | | | 65 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | | | | 65 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | SNCB CL E G H | 6620 | 11140 | OMIM:127750 | Dementia, lewy body | . | | | 2 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0100315 | HP:0100315 | Lewy bodies | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |