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:0002756 | HP:0002756 | Pathologic fracture | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 71 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 5 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | B2M CL E G H | 567 | 914 | ORPHA:314652 | Variant ABeta2M amyloidosis | HP:0040283 - Occasional | | | 8 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040281 - Very frequent | | | 1 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | HP:0040284 - Very rare | | | 833 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040284 - Very rare | | | 31 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040284 - Very rare | | | 5 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | MET CL E G H | 4233 | 7029 | OMIM:607278 | Osteofibrous dysplasia, susceptibility to | | | | 375 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | HP:0040284 - Very rare | | | 365 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | 77 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040283 - Occasional | | | 47 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040283 - Occasional | | | 52 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | . | | | 109 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040284 - Very rare | | | 104 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 54 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 149 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | . | | | 82 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | . | | | 72 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | HP:0040284 - Very rare | | | 911 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0002756 | HP:0002756 | Pathologic fracture | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040284 - Very rare | | | 63 | | |