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:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | | | | | | |
HP:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | 1 | | |
HP:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | | | |
HP:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0020047 | HP:0020047 | Abnormal myeloid cell morphology | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | | | | | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | 1 | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0020047 | HP:0012130 | Abnormal erythroid lineage cell morphology | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0020047 | HP:0025034 | Abnormal morphology of erythroid progenitor cell | 2 | CL E G H | | | | | | | | | | |
HP:0020047 | HP:0034278 | Multinucleated erythroblast | 2 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | | | | | | |
HP:0020047 | HP:0031688 | Erythroid dysplasia | 2 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | . | | | 23 | | |
HP:0020047 | HP:0025035 | Abnormal proerythroblast morphology | 2 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | 1 | | |
HP:0020047 | HP:0031688 | Erythroid dysplasia | 2 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0020047 | HP:0025035 | Abnormal proerythroblast morphology | 2 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | | | |
HP:0020047 | HP:0031688 | Erythroid dysplasia | 2 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0020047 | HP:0031688 | Erythroid dysplasia | 2 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |