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:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040281 - Very frequent | | | 11 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | | | | 221 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040283 - Occasional | | | 287 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0045007 | HP:0045007 | Abnormal substantia nigra morphology | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | | | | 51 | | |
HP:0045007 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 1 | CL E G H | | | | | | | | | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0045007 | HP:0012678 | Iron accumulation in substantia nigra | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0045007 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0045007 | HP:0034316 | Thinning of the substantia nigra pars compacta | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | . | | | 138 | | |
HP:0045007 | HP:0033048 | Substantia nigra hypointensity on susceptibility-weighted imaging | 1 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0045007 | HP:0012678 | Iron accumulation in substantia nigra | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0045007 | HP:0011960 | Substantia nigra gliosis | 1 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0045007 | HP:0012678 | Iron accumulation in substantia nigra | 1 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0045007 | HP:0012678 | Iron accumulation in substantia nigra | 1 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |