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:0040303 | HP:0040303 | Decreased serum iron | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | HP:0040283 - Occasional | | | | | |
HP:0040303 | HP:0040303 | Decreased serum iron | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |