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:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040281 - Very frequent | | | 580 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040281 - Very frequent | | | 580 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040281 - Very frequent | | | 580 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | SLC11A2 CL E G H | 4891 | 10908 | OMIM:206100 | Anemia, hypochromic microcytic, with iron overload 1 | . | | | 60 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | SLC25A38 CL E G H | 54977 | 26054 | OMIM:205950 | Anemia, sideroblastic, 2, pyridoxine-refractory | . | | | 41 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | HP:0040283 - Occasional | | | 109 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:617948 | ELLIPTOCYTOSIS 3; EL3 | | | | 156 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040282 - Frequent | | | 1 | | |
HP:0025066 | HP:0025066 | Decreased mean corpuscular volume | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |