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:0008993 | HP:0008993 | Increased intraabdominal fat | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0008993 | HP:0008993 | Increased intraabdominal fat | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0008993 | HP:0008993 | Increased intraabdominal fat | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0008993 | HP:0008993 | Increased intraabdominal fat | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |