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:0006247 | HP:0006247 | Enlarged interphalangeal joints | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0006247 | HP:0006247 | Enlarged interphalangeal joints | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0006247 | HP:0006247 | Enlarged interphalangeal joints | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | | | | 284 | | |
HP:0006247 | HP:0006247 | Enlarged interphalangeal joints | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0006247 | HP:0006247 | Enlarged interphalangeal joints | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0006247 | HP:0006247 | Enlarged interphalangeal joints | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:140600 | Osteoarthritis of distal interphalangeal joints | | | | 32 | | |
HP:0006247 | HP:0012314 | Bouchard's node | 1 | CL E G H | | | | | | | | | | |
HP:0006247 | HP:0012313 | Heberden's node | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | . | | | 284 | | |
HP:0006247 | HP:0006185 | Enlarged proximal interphalangeal joints | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0006247 | HP:0006185 | Enlarged proximal interphalangeal joints | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0006247 | HP:0012313 | Heberden's node | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:140600 | Osteoarthritis of distal interphalangeal joints | . | | | 32 | | |