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:0031550 | HP:0031550 | Abnormal flow cytometry test result | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0031550 | HP:0031550 | Abnormal flow cytometry test result | 0 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |
HP:0031550 | HP:0031551 | Reduced cell surface marker level | 1 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0031550 | HP:0031551 | Reduced cell surface marker level | 1 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |
HP:0031550 | HP:0031552 | Reduced fibroblast surface marker level | 2 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0041048 | Decreased expression of GPI-anchored proteins on the cell surface | 2 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0031550 | HP:0031553 | Reduced granulocyte surface marker level | 2 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |
HP:0031550 | HP:0031559 | Reduced fibroblast CD16 level | 3 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0031558 | Reduced fibroblast CD59 level | 3 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0031557 | Reduced fibroblast CD55 level | 3 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0031556 | Reduced granulocyte CD16 level | 3 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0031554 | Reduced granulocyte CD55 level | 3 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0032455 | Reduced granulocyte CD18 level | 3 | CL E G H | | | | | | | | | | |
HP:0031550 | HP:0031555 | Reduced granulocyte CD59 level | 3 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |