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:0001931 | HP:0001931 | Hypochromic anemia | 0 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | | | | 35 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | | | | 72 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | | | | 72 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ATRX CL E G H | 546 | 886 | OMIM:300448 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS | | | | 169 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | 169 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | | | | 9 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | CLPX CL E G H | 10845 | 2088 | OMIM:618015 | Protoporphyria, erythropoietic, 2 | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 263 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | | | | 115 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | | | | 25 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | FGF23 CL E G H | 8074 | 3680 | ORPHA:89937 | Autosomal dominant hypophosphatemic rickets | | | | 51 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:67044 | Thrombocytopenia with congenital dyserythropoietic anemia | HP:0040281 - Very frequent | | | 29 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:604131 | ALPHA-THALASSEMIA | | | | 200 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:604131 | ALPHA-THALASSEMIA | | | | 88 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | OMIM:604131 | ALPHA-THALASSEMIA | | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | OMIM:613985 | BETA-THALASSEMIA | | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040284 - Very rare | | | 580 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBB-LCR CL E G H | 109580095 | | OMIM:613985 | BETA-THALASSEMIA | | | | 1 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 148 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 730 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | | | | 186 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 6 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | PLA2G4A CL E G H | 5321 | 9035 | OMIM:618372 | GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP | | | | 2 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | | | | 2 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | TF CL E G H | 7018 | 11740 | OMIM:209300 | ATRANSFERRINEMIA | . | | | 45 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | TMPRSS6 CL E G H | 164656 | 16517 | OMIM:206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | | | | 65 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001931 | HP:0001931 | Hypochromic anemia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | . | | | 35 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | . | | | 72 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | HP:0040283 - Occasional | | | 72 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | ATRX CL E G H | 546 | 886 | OMIM:300448 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS | | | | 169 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | 169 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | CLPX CL E G H | 10845 | 2088 | OMIM:618015 | Protoporphyria, erythropoietic, 2 | HP:0040284 - Very rare | | | | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 263 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040281 - Very frequent | | | 115 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040282 - Frequent | | | 25 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | FGF23 CL E G H | 8074 | 3680 | ORPHA:89937 | Autosomal dominant hypophosphatemic rickets | HP:0040282 - Frequent | | | 51 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBA1 CL E G H | 3039 | 4823 | OMIM:604131 | ALPHA-THALASSEMIA | . | | | 200 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBA2 CL E G H | 3040 | 4824 | OMIM:604131 | ALPHA-THALASSEMIA | . | | | 88 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB CL E G H | 3043 | 4827 | OMIM:604131 | ALPHA-THALASSEMIA | . | | | 580 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB CL E G H | 3043 | 4827 | OMIM:613985 | BETA-THALASSEMIA | . | | | 580 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040281 - Very frequent | | | 580 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040281 - Very frequent | | | 580 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBB-LCR CL E G H | 109580095 | | OMIM:613985 | BETA-THALASSEMIA | . | | | 1 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040283 - Occasional | | | 730 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040281 - Very frequent | | | 186 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 6 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | PLA2G4A CL E G H | 5321 | 9035 | OMIM:618372 | GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP | | | | 2 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | TMPRSS6 CL E G H | 164656 | 16517 | OMIM:206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | | | | 65 | | |
HP:0001931 | HP:0004840 | Hypochromic microcytic anemia | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0001931 | HP:0001891 | Iron deficiency anemia | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |