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:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | | | | 13 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | | | | 263 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | | | | 115 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | | | | 115 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | | | | 38 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | 1 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | | 51 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0040130 | HP:0040130 | Abnormal serum iron concentration | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | . | | | 15 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | 1 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040282 - Frequent | | | 51 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | HP:0040283 - Occasional | | | | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | HP:0003577 - Congenital onset | | | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040282 - Frequent | | | 1 | | |
HP:0040130 | HP:0003452 | Increased serum iron | 1 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | . | | | 67 | | |
HP:0040130 | HP:0040303 | Decreased serum iron | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |