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:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | . | | | 35 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | . | | | 72 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | ATRX CL E G H | 546 | 886 | OMIM:300448 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS | | | | 169 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040281 - Very frequent | | | 115 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040282 - Frequent | | | 25 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:604131 | ALPHA-THALASSEMIA | . | | | 200 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:604131 | ALPHA-THALASSEMIA | . | | | 88 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB CL E G H | 3043 | 4827 | OMIM:604131 | ALPHA-THALASSEMIA | . | | | 580 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB CL E G H | 3043 | 4827 | OMIM:613985 | BETA-THALASSEMIA | . | | | 580 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040281 - Very frequent | | | 580 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040281 - Very frequent | | | 580 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBB-LCR CL E G H | 109580095 | | OMIM:613985 | BETA-THALASSEMIA | . | | | 1 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040281 - Very frequent | | | 186 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | TMPRSS6 CL E G H | 164656 | 16517 | OMIM:206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | | | | 65 | | |
HP:0004840 | HP:0004840 | Hypochromic microcytic anemia | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |