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:0012310 | HP:0012310 | Abnormal monocyte count | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | | | | 56 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | | | | 65 | | |
HP:0012310 | HP:0012310 | Abnormal monocyte count | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | . | | | 56 | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0012310 | HP:0012312 | Monocytopenia | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:86788 | X-linked severe congenital neutropenia | HP:0040281 - Very frequent | | | 65 | | |
HP:0012310 | HP:0012311 | Monocytosis | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |