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:0001915 | HP:0001915 | Aplastic anemia | 0 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | . | | | 11 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | HP:0040283 - Occasional | | | 137 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 56 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:609135 | APLASTIC ANEMIA | | | | 23 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | NBN CL E G H | 4683 | 7652 | OMIM:609135 | APLASTIC ANEMIA | | | | 706 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | . | | | 1349 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:609135 | APLASTIC ANEMIA | | | | 58 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040284 - Very rare | | | 445 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:609135 | APLASTIC ANEMIA | | | | 26 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | SRP72 CL E G H | 6731 | 11303 | OMIM:614675 | Bone marrow failure syndrome 1 | . | | | 68 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 82 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | . | | | 48 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:609135 | APLASTIC ANEMIA | | | | 238 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0001915 | HP:0001915 | Aplastic anemia | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | HP:0040284 - Very rare | | | 81 | | |