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:0002653 | HP:0002653 | Bone pain | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | | | 112 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:85193 | Idiopathic juvenile osteoporosis | HP:0040281 - Very frequent | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040281 - Very frequent | | | 79 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 96 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | FGF23 CL E G H | 8074 | 3680 | ORPHA:89937 | Autosomal dominant hypophosphatemic rickets | HP:0040282 - Frequent | | | 51 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | FGF23 CL E G H | 8074 | 3680 | OMIM:193100 | Hypophosphatemic rickets, autosomal dominant | . | | | 51 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 9 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040281 - Very frequent | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:57782 | Mazabraud syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:2762 | Progressive osseous heteroplasia | HP:0040281 - Very frequent | | | 101 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 58 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040281 - Very frequent | | | 55 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | HP:0040282 - Frequent | | | 15 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | HP:0040282 - Frequent | | | 29 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:166119 | Isolated osteopoikilosis | | | | 68 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040281 - Very frequent | | | 186 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 3 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | HP:0040283 - Occasional | | | 1129 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | HP:0040282 - Frequent | | | 58 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:2499 | Metachondromatosis | HP:0040281 - Very frequent | | | 291 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040282 - Frequent | | | 47 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040282 - Frequent | | | 52 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:167250 | Paget disease of bone 3 | . | | | 62 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:1059 | Blue rubber bleb nevus | HP:0040281 - Very frequent | | | 78 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | . | | | 72 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | . | | | 72 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 171 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040281 - Very frequent | | | 104 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | WNT1 CL E G H | 7471 | 12774 | ORPHA:85193 | Idiopathic juvenile osteoporosis | HP:0040281 - Very frequent | | | 12 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | WNT3A CL E G H | 89780 | 15983 | ORPHA:85193 | Idiopathic juvenile osteoporosis | HP:0040281 - Very frequent | | | | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002653 | HP:0002653 | Bone pain | 0 | ZNF687 CL E G H | 57592 | 29277 | OMIM:616833 | Paget disease of bone 6 | . | | | 2 | | |