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:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040284 - Very rare | | | 100 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | . | | | 91 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:83472 | CAMOS syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0007153 | HP:0007153 | Progressive extrapyramidal movement disorder | 0 | ZNF592 CL E G H | 9640 | 28986 | ORPHA:83472 | CAMOS syndrome | HP:0040281 - Very frequent | | | 4 | | |