Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | ABL1 CL E G H | 25 | 76 | OMIM:608232 | Leukemia, chronic myeloid | | | | 51 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | BCR CL E G H | 613 | 1014 | OMIM:608232 | Leukemia, chronic myeloid | | | | 5 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:245480 | Specific granule deficiency | | | | 3 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0003282 | HP:0003282 | Low alkaline phosphatase | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0003282 | HP:0010687 | Low intestinal alkaline phosphatase | 1 | CL E G H | | | | | | | | | | |
HP:0003282 | HP:0010686 | Low alkaline phosphatase of hepatic origin | 1 | CL E G H | | | | | | | | | | |
HP:0003282 | HP:0010685 | Low alkaline phosphatase of renal origin | 1 | CL E G H | | | | | | | | | | |
HP:0003282 | HP:0010684 | Low alkaline phosphatase of bone origin | 1 | CL E G H | | | | | | | | | | |
HP:0003282 | HP:0010683 | Low tissue non-specific alkaline phosphatase | 1 | CL E G H | | | | | | | | | | |
HP:0003282 | HP:0010688 | Low placental alkaline phosphatase | 1 | CL E G H | | | | | | | | | | |
HP:0003282 | HP:0004852 | Reduced leukocyte alkaline phosphatase | 1 | ABL1 CL E G H | 25 | 76 | OMIM:608232 | Leukemia, chronic myeloid | . | | | 51 | | |
HP:0003282 | HP:0004852 | Reduced leukocyte alkaline phosphatase | 1 | BCR CL E G H | 613 | 1014 | OMIM:608232 | Leukemia, chronic myeloid | . | | | 5 | | |
HP:0003282 | HP:0041044 | Low neutrophil alkaline phosphatase | 1 | CEBPE CL E G H | 1053 | 1836 | OMIM:245480 | Specific granule deficiency | . | | | 3 | | |
HP:0003282 | HP:0008161 | Absent leukocyte alkaline phosphatase | 2 | CL E G H | | | | | | | | | | |