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:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040282 - Frequent | | | 36 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0012391 | HP:0012391 | Hyporeflexia of upper limbs | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0012391 | HP:0033202 | Brachioradialis hyporeflexia | 1 | CL E G H | | | | | | | | | | |
HP:0012391 | HP:0033201 | Biceps hyporeflexia | 1 | CL E G H | | | | | | | | | | |
HP:0012391 | HP:0033200 | Triceps hyporeflexia | 1 | CL E G H | | | | | | | | | | |