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:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | | | | 12 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | | | | 8 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0004361 | HP:0004361 | Abnormal circulating leptin concentration | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0004361 | HP:0031793 | Increased serum leptin | 1 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 8 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040280 - Obligate | | | 47 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040280 - Obligate | | | 46 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0004361 | HP:0031793 | Increased serum leptin | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0004361 | HP:0003292 | Decreased serum leptin | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |