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:0009751 | HP:0009751 | Aplasia of the pectoralis major muscle | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0009751 | HP:0009751 | Aplasia of the pectoralis major muscle | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | | | |
HP:0009751 | HP:0009751 | Aplasia of the pectoralis major muscle | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | | | |
HP:0009751 | HP:0009751 | Aplasia of the pectoralis major muscle | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0009751 | HP:0009751 | Aplasia of the pectoralis major muscle | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0009751 | HP:0009751 | Aplasia of the pectoralis major muscle | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |