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:0003418 | HP:0003418 | Back pain | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040283 - Occasional | | | 135 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 54 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 184 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 289 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040282 - Frequent | | | 102 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | | | | 284 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040283 - Occasional | | | 72 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | . | | | 4 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040282 - Frequent | | | 81 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 196 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 125 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040284 - Very rare | | | 32 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 220 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 1349 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 192 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 9 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 162 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040282 - Frequent | | | 2 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040282 - Frequent | | | 41 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 63 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 137 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 56 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 57 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 504 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 87 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 47 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 22 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | 1 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 124 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | | | | 5 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | | | | 19 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040282 - Frequent | | | 82 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 238 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 911 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | | | |
HP:0003418 | HP:0003418 | Back pain | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040282 - Frequent | | | 46 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | . | | | 111 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0003418 | HP:0003418 | Back pain | 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:0003418 | HP:0003418 | Back pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0003418 | HP:0003418 | Back pain | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0003418 | HP:0033746 | Intrascapular pain | 1 | CL E G H | | | | | | | | | | |
HP:0003418 | HP:0011868 | Sciatica | 1 | CL E G H | | | | | | | | | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040283 - Occasional | | | 284 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | 1 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | . | | | 19 | | |
HP:0003418 | HP:0003419 | Low back pain | 1 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |