Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0031831 | HP:0031831 | Decreased serum zinc | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0031831 | HP:0031831 | Decreased serum zinc | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0031831 | HP:0031831 | Decreased serum zinc | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0031831 | HP:0031831 | Decreased serum zinc | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0031831 | HP:0031831 | Decreased serum zinc | 0 | SLC30A2 CL E G H | 7780 | 11013 | OMIM:608118 | Zinc deficiency, transient neonatal | | | | 3 | | |
HP:0031831 | HP:0031831 | Decreased serum zinc | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | | | | 55 | | |