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:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 415 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 48 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 151 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 151 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:613388 | Fanconi renotubular syndrome 2 | | | | 47 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | | | | 47 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | | | | 52 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0010679 | HP:0010679 | Elevated tissue non-specific alkaline phosphatase | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0010679 | HP:0010680 | Elevated alkaline phosphatase of renal origin | 1 | CL E G H | | | | | | | | | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0010679 | HP:0010638 | Elevated alkaline phosphatase of hepatic origin | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0010679 | HP:0010638 | Elevated alkaline phosphatase of hepatic origin | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0010679 | HP:0010638 | Elevated alkaline phosphatase of hepatic origin | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:613388 | Fanconi renotubular syndrome 2 | . | | | 47 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040281 - Very frequent | | | 47 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040281 - Very frequent | | | 52 | | |
HP:0010679 | HP:0010638 | Elevated alkaline phosphatase of hepatic origin | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0010679 | HP:0010639 | Elevated alkaline phosphatase of bone origin | 1 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |