| Term ID: |
12531 |
| Name: |
Pain |
| Synonym: |
Pain |
| Definition: |
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| Comments: |
|
| Reference: |
HP:0012531 |
| Genes and Diseases: | |
Child Nodes: |
........ Abdominal pain (HP:0002027) 
................... HP:0002574 Episodic abdominal pain
................... HP:0011848 Abdominal colic |
........Bone pain (HP:0002653)
|
........Arthralgia (HP:0002829)
................... HP:0005059 Arthralgia/arthritis |
........Myalgia (HP:0003326)
................... HP:0003738 Exercise-induced myalgia |
........Back pain (HP:0003418)
................... HP:0003419 Low back pain
................... HP:0011868 Sciatica |
........Costochondral pain (HP:0006649)
|
........Limb pain (HP:0009763)
................... HP:0012513 Upper limb pain
................... HP:0012514 Lower limb pain |
........Chronic pain (HP:0012532)
|
........Allodynia (HP:0012533)
|
........Foot pain (HP:0025238)
|
........Scrotal pain (HP:0030155)
|
........Flank pain (HP:0030157)
|
........Ear pain (HP:0030766)
|
........Neck pain (HP:0030833)
|
........Shoulder pain (HP:0030834)
|
........Elbow pain (HP:0030835)
|
........Wrist pain (HP:0030836)
|
........Finger pain (HP:0030837)
|
........Hip pain (HP:0030838)
|
........Knee pain (HP:0030839)
|
........Ankle pain (HP:0030840)
|
........Toe pain (HP:0030841)
|
........Vulvodynia (HP:0030943)
|
........Groin pain (HP:0031520)
|
........Jaw pain (HP:0040264)
|
........Chest pain (HP:0100749)
|
........Mandibular pain (HP:0200025)
|
........Ocular pain (HP:0200026)
................... HP:0030857 Eye movement-induced pain |
........Epigastric pain (HP:0410019)
|
........Anal pain (HP:0500005)
|
Sister Nodes: |
..Asthenia (HP:0025406)
|
..Body odor (HP:0500001)
|
..Chest tightness (HP:0031352)
|
..Chills (HP:0025143)
|
..Fatigue (HP:0012378)
|
..Hot flashes (HP:0031217)
|
..Impairment of activities of daily living (HP:0031058)
|
..Night sweats (HP:0030166)
|
..Shivering (HP:0025144)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
|---|
HPO disease - gene - phenotype typical associations: | | HP:0012531 | HP:0012531 | Pain | 0 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | 40 | | 483 | 105850 | | HP:0012531 | HP:0012531 | Pain | 0 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | 14 | | 535 | 602572 | | HP:0012531 | HP:0012531 | Pain | 0 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | 44 | | 10555 | 601517 | | HP:0012531 | HP:0012531 | Pain | 0 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 1 | | | 28449 | 615699 | | HP:0012531 | HP:0012531 | Pain | 0 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | 24 | | 28337 | 614260 | | HP:0012531 | HP:0012531 | Pain | 0 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | 21 | | 1591 | 600227 | | HP:0012531 | HP:0012531 | Pain | 0 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | | 1260 | 603191 | | HP:0012531 | HP:0012531 | Pain | 0 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | 27 | | 15559 | 615903 | | HP:0012531 | HP:0012531 | Pain | 0 | CHEK2 CL E G H | 11200 | 668 | | | | ORPHA | 1 | 213 | | 16627 | 604373 | | HP:0012531 | HP:0012531 | Pain | 0 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | 22 | | 24537 | 609512 | | HP:0012531 | HP:0012531 | Pain | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | 114 | | 2194 | 113811 | | HP:0012531 | HP:0012531 | Pain | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | 5 | | 2244 | 601683 | | HP:0012531 | HP:0012531 | Pain | 0 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | 11 | | 2671 | 124050 | | HP:0012531 | HP:0012531 | Pain | 0 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | 57 | | 2711 | 601143 | | HP:0012531 | HP:0012531 | Pain | 0 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | 4 | | 3388 | 602188 | | HP:0012531 | HP:0012531 | Pain | 0 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | 25 | | 3432 | 600543 | | HP:0012531 | HP:0012531 | Pain | 0 | FERMT3 CL E G H | 83706 | 612840 | Leukocyte adhesion deficiency, type III | 612840 | C2748536 | OMIM | 1 | 14 | | 23151 | 607901 | | HP:0012531 | HP:0012531 | Pain | 0 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | 71 | | 16873 | 609390 | | HP:0012531 | HP:0012531 | Pain | 0 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | 113 | | 4010 | 137070 | | HP:0012531 | HP:0012531 | Pain | 0 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | 18 | | 4315 | 603371 | | HP:0012531 | HP:0012531 | Pain | 0 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | 12 | | 5031 | 164017 | | HP:0012531 | HP:0012531 | Pain | 0 | HOGA1 CL E G H | 112817 | 93600 | | | | ORPHA | 1 | 33 | | 25155 | 613597 | | HP:0012531 | HP:0012531 | Pain | 0 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | 3 | | 26576 | 605739 | | HP:0012531 | HP:0012531 | Pain | 0 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | 16 | | 6912 | 164015 | | HP:0012531 | HP:0012531 | Pain | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | 231 | | 16877 | 608507 | | HP:0012531 | HP:0012531 | Pain | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | 28 | | 7154 | 120520 | | HP:0012531 | HP:0012531 | Pain | 0 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | 25 | | 7737 | 162230 | | HP:0012531 | HP:0012531 | Pain | 0 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | 30 | | 7744 | 604588 | | HP:0012531 | HP:0012531 | Pain | 0 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | 23 | | 17646 | 610661 | | HP:0012531 | HP:0012531 | Pain | 0 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 1 | 15 | | 8142 | 606580 | | HP:0012531 | HP:0012531 | Pain | 0 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | 72 | | 17142 | 602432 | | HP:0012531 | HP:0012531 | Pain | 0 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | 9 | | 8881 | 176610 | | HP:0012531 | HP:0012531 | Pain | 0 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | 22 | | 9204 | 168820 | | HP:0012531 | HP:0012531 | Pain | 0 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | 4 | | 9205 | 602447 | | HP:0012531 | HP:0012531 | Pain | 0 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | 5 | | 9206 | 602720 | | HP:0012531 | HP:0012531 | Pain | 0 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | 10 | | 9237 | 604517 | | HP:0012531 | HP:0012531 | Pain | 0 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | 10 | | 9461 | 170710 | | HP:0012531 | HP:0012531 | Pain | 0 | RB1 CL E G H | 5925 | 668 | | | | ORPHA | 1 | 1113 | | 9884 | 614041 | | HP:0012531 | HP:0012531 | Pain | 0 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 1 | 3 | | 9955 | 164014 | | HP:0012531 | HP:0012531 | Pain | 0 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | 20 | | 10583 | 604385 | | HP:0012531 | HP:0012531 | Pain | 0 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | 217 | | 11179 | 147450 | | HP:0012531 | HP:0012531 | Pain | 0 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | 98 | | 11280 | 601530 | | HP:0012531 | HP:0012531 | Pain | 0 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | 12 | | 11547 | 601574 | | HP:0012531 | HP:0012531 | Pain | 0 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | 70 | | 11571 | 605078 | | HP:0012531 | HP:0012531 | Pain | 0 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | 137 | | 11584 | 604834 | | HP:0012531 | HP:0012531 | Pain | 0 | TP53 CL E G H | 7157 | 668 | | | | ORPHA | 1 | 541 | | 11998 | 191170 | | HP:0012531 | HP:0012531 | Pain | 0 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | 56 | | 17761 | 605086 | | HP:0012531 | HP:0012531 | Pain | 0 | TRPA1 CL E G H | 8989 | 615040 | Familial episodic pain syndrome 1 | 615040 | C3808667 | OMIM | 1 | 3 | | 497 | 604775 | | HP:0012531 | HP:0012531 | Pain | 0 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | 31 | | 12509 | 300264 | | HP:0012531 | HP:0012531 | Pain | 0 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | 11 | | 23150 | 609894 | | HP:0012531 | HP:0012531 | Pain | 0 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | 10 | | 12649 | 605704 | | HP:0012531 | HP:0012531 | Pain | 0 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | 65 | | 12666 | 601023 | | HP:0012531 | HP:0012531 | Pain | 1 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | 40 | | 483 | 105850 | | HP:0012531 | HP:0012531 | Pain | 1 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | 14 | | 535 | 602572 | | HP:0012531 | HP:0012531 | Pain | 1 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | 44 | | 10555 | 601517 | | HP:0012531 | HP:0012531 | Pain | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 1 | | | 28449 | 615699 | | HP:0012531 | HP:0012531 | Pain | 1 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | 24 | | 28337 | 614260 | | HP:0012531 | HP:0012531 | Pain | 1 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | 21 | | 1591 | 600227 | | HP:0012531 | HP:0012531 | Pain | 1 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | | 1260 | 603191 | | HP:0012531 | HP:0012531 | Pain | 1 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | 27 | | 15559 | 615903 | | HP:0012531 | HP:0012531 | Pain | 1 | CHEK2 CL E G H | 11200 | 668 | | | | ORPHA | 1 | 213 | | 16627 | 604373 | | HP:0012531 | HP:0012531 | Pain | 1 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | 22 | | 24537 | 609512 | | HP:0012531 | HP:0012531 | Pain | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | 114 | | 2194 | 113811 | | HP:0012531 | HP:0012531 | Pain | 1 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | 5 | | 2244 | 601683 | | HP:0012531 | HP:0012531 | Pain | 1 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | 11 | | 2671 | 124050 | | HP:0012531 | HP:0012531 | Pain | 1 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | 57 | | 2711 | 601143 | | HP:0012531 | HP:0012531 | Pain | 1 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | 4 | | 3388 | 602188 | | HP:0012531 | HP:0012531 | Pain | 1 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | 25 | | 3432 | 600543 | | HP:0012531 | HP:0012531 | Pain | 1 | FERMT3 CL E G H | 83706 | 612840 | Leukocyte adhesion deficiency, type III | 612840 | C2748536 | OMIM | 1 | 14 | | 23151 | 607901 | | HP:0012531 | HP:0012531 | Pain | 1 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | 71 | | 16873 | 609390 | | HP:0012531 | HP:0012531 | Pain | 1 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | 113 | | 4010 | 137070 | | HP:0012531 | HP:0012531 | Pain | 1 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | 18 | | 4315 | 603371 | | HP:0012531 | HP:0012531 | Pain | 1 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | 12 | | 5031 | 164017 | | HP:0012531 | HP:0012531 | Pain | 1 | HOGA1 CL E G H | 112817 | 93600 | | | | ORPHA | 1 | 33 | | 25155 | 613597 | | HP:0012531 | HP:0012531 | Pain | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | 3 | | 26576 | 605739 | | HP:0012531 | HP:0012531 | Pain | 1 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | 16 | | 6912 | 164015 | | HP:0012531 | HP:0012531 | Pain | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | 231 | | 16877 | 608507 | | HP:0012531 | HP:0012531 | Pain | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | 28 | | 7154 | 120520 | | HP:0012531 | HP:0012531 | Pain | 1 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | 25 | | 7737 | 162230 | | HP:0012531 | HP:0012531 | Pain | 1 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | 30 | | 7744 | 604588 | | HP:0012531 | HP:0012531 | Pain | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | 23 | | 17646 | 610661 | | HP:0012531 | HP:0012531 | Pain | 1 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 1 | 15 | | 8142 | 606580 | | HP:0012531 | HP:0012531 | Pain | 1 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | 72 | | 17142 | 602432 | | HP:0012531 | HP:0012531 | Pain | 1 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | 9 | | 8881 | 176610 | | HP:0012531 | HP:0012531 | Pain | 1 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | 22 | | 9204 | 168820 | | HP:0012531 | HP:0012531 | Pain | 1 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | 4 | | 9205 | 602447 | | HP:0012531 | HP:0012531 | Pain | 1 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | 5 | | 9206 | 602720 | | HP:0012531 | HP:0012531 | Pain | 1 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | 10 | | 9237 | 604517 | | HP:0012531 | HP:0012531 | Pain | 1 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | 10 | | 9461 | 170710 | | HP:0012531 | HP:0012531 | Pain | 1 | RB1 CL E G H | 5925 | 668 | | | | ORPHA | 1 | 1113 | | 9884 | 614041 | | HP:0012531 | HP:0012531 | Pain | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 1 | 3 | | 9955 | 164014 | | HP:0012531 | HP:0012531 | Pain | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | 20 | | 10583 | 604385 | | HP:0012531 | HP:0012531 | Pain | 1 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | 217 | | 11179 | 147450 | | HP:0012531 | HP:0012531 | Pain | 1 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | 98 | | 11280 | 601530 | | HP:0012531 | HP:0012531 | Pain | 1 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | 12 | | 11547 | 601574 | | HP:0012531 | HP:0012531 | Pain | 1 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | 70 | | 11571 | 605078 | | HP:0012531 | HP:0012531 | Pain | 1 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | 137 | | 11584 | 604834 | | HP:0012531 | HP:0012531 | Pain | 1 | TP53 CL E G H | 7157 | 668 | | | | ORPHA | 1 | 541 | | 11998 | 191170 | | HP:0012531 | HP:0012531 | Pain | 1 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | 56 | | 17761 | 605086 | | HP:0012531 | HP:0012531 | Pain | 1 | TRPA1 CL E G H | 8989 | 615040 | Familial episodic pain syndrome 1 | 615040 | C3808667 | OMIM | 1 | 3 | | 497 | 604775 | | HP:0012531 | HP:0012531 | Pain | 1 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | 31 | | 12509 | 300264 | | HP:0012531 | HP:0012531 | Pain | 1 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | 11 | | 23150 | 609894 | | HP:0012531 | HP:0012531 | Pain | 1 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | 10 | | 12649 | 605704 | | HP:0012531 | HP:0012531 | Pain | 1 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | 65 | | 12666 | 601023 | | HP:0012531 | HP:0012531 | Pain | 2 | ANG CL E G H | 283 | 803 | | | | ORPHA | 1 | 40 | | 483 | 105850 | | HP:0012531 | HP:0012531 | Pain | 2 | ANXA11 CL E G H | 311 | 803 | | | | ORPHA | 1 | 14 | | 535 | 602572 | | HP:0012531 | HP:0012531 | Pain | 2 | ATXN2 CL E G H | 6311 | 803 | | | | ORPHA | 1 | 44 | | 10555 | 601517 | | HP:0012531 | HP:0012531 | Pain | 2 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 1 | | | 28449 | 615699 | | HP:0012531 | HP:0012531 | Pain | 2 | C9orf72 CL E G H | 203228 | 803 | | | | ORPHA | 1 | 24 | | 28337 | 614260 | | HP:0012531 | HP:0012531 | Pain | 2 | CCNF CL E G H | 899 | 803 | | | | ORPHA | 1 | 21 | | 1591 | 600227 | | HP:0012531 | HP:0012531 | Pain | 2 | CFAP410 CL E G H | 755 | 803 | | | | ORPHA | 1 | | | 1260 | 603191 | | HP:0012531 | HP:0012531 | Pain | 2 | CHCHD10 CL E G H | 400916 | 803 | | | | ORPHA | 1 | 27 | | 15559 | 615903 | | HP:0012531 | HP:0012531 | Pain | 2 | CHEK2 CL E G H | 11200 | 668 | | | | ORPHA | 1 | 213 | | 16627 | 604373 | | HP:0012531 | HP:0012531 | Pain | 2 | CHMP2B CL E G H | 25978 | 803 | | | | ORPHA | 1 | 22 | | 24537 | 609512 | | HP:0012531 | HP:0012531 | Pain | 2 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | 114 | | 2194 | 113811 | | HP:0012531 | HP:0012531 | Pain | 2 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | 5 | | 2244 | 601683 | | HP:0012531 | HP:0012531 | Pain | 2 | DAO CL E G H | 1610 | 803 | | | | ORPHA | 1 | 11 | | 2671 | 124050 | | HP:0012531 | HP:0012531 | Pain | 2 | DCTN1 CL E G H | 1639 | 803 | | | | ORPHA | 1 | 57 | | 2711 | 601143 | | HP:0012531 | HP:0012531 | Pain | 2 | EPHA4 CL E G H | 2043 | 803 | | | | ORPHA | 1 | 4 | | 3388 | 602188 | | HP:0012531 | HP:0012531 | Pain | 2 | ERBB4 CL E G H | 2066 | 803 | | | | ORPHA | 1 | 25 | | 3432 | 600543 | | HP:0012531 | HP:0012531 | Pain | 2 | FERMT3 CL E G H | 83706 | 612840 | Leukocyte adhesion deficiency, type III | 612840 | C2748536 | OMIM | 1 | 14 | | 23151 | 607901 | | HP:0012531 | HP:0012531 | Pain | 2 | FIG4 CL E G H | 9896 | 803 | | | | ORPHA | 1 | 71 | | 16873 | 609390 | | HP:0012531 | HP:0012531 | Pain | 2 | FUS CL E G H | 2521 | 803 | | | | ORPHA | 1 | 113 | | 4010 | 137070 | | HP:0012531 | HP:0012531 | Pain | 2 | GLE1 CL E G H | 2733 | 803 | | | | ORPHA | 1 | 18 | | 4315 | 603371 | | HP:0012531 | HP:0012531 | Pain | 2 | HNRNPA1 CL E G H | 3178 | 803 | | | | ORPHA | 1 | 12 | | 5031 | 164017 | | HP:0012531 | HP:0012531 | Pain | 2 | HOGA1 CL E G H | 112817 | 93600 | | | | ORPHA | 1 | 33 | | 25155 | 613597 | | HP:0012531 | HP:0012531 | Pain | 2 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | 3 | | 26576 | 605739 | | HP:0012531 | HP:0012531 | Pain | 2 | MATR3 CL E G H | 9782 | 803 | | | | ORPHA | 1 | 16 | | 6912 | 164015 | | HP:0012531 | HP:0012531 | Pain | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | 231 | | 16877 | 608507 | | HP:0012531 | HP:0012531 | Pain | 2 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | 28 | | 7154 | 120520 | | HP:0012531 | HP:0012531 | Pain | 2 | NEFH CL E G H | 4744 | 803 | | | | ORPHA | 1 | 25 | | 7737 | 162230 | | HP:0012531 | HP:0012531 | Pain | 2 | NEK1 CL E G H | 4750 | 803 | | | | ORPHA | 1 | 30 | | 7744 | 604588 | | HP:0012531 | HP:0012531 | Pain | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | 23 | | 17646 | 610661 | | HP:0012531 | HP:0012531 | Pain | 2 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 1 | 15 | | 8142 | 606580 | | HP:0012531 | HP:0012531 | Pain | 2 | OPTN CL E G H | 10133 | 803 | | | | ORPHA | 1 | 72 | | 17142 | 602432 | | HP:0012531 | HP:0012531 | Pain | 2 | PFN1 CL E G H | 5216 | 803 | | | | ORPHA | 1 | 9 | | 8881 | 176610 | | HP:0012531 | HP:0012531 | Pain | 2 | PON1 CL E G H | 5444 | 803 | | | | ORPHA | 1 | 22 | | 9204 | 168820 | | HP:0012531 | HP:0012531 | Pain | 2 | PON2 CL E G H | 5445 | 803 | | | | ORPHA | 1 | 4 | | 9205 | 602447 | | HP:0012531 | HP:0012531 | Pain | 2 | PON3 CL E G H | 5446 | 803 | | | | ORPHA | 1 | 5 | | 9206 | 602720 | | HP:0012531 | HP:0012531 | Pain | 2 | PPARGC1A CL E G H | 10891 | 803 | | | | ORPHA | 1 | 10 | | 9237 | 604517 | | HP:0012531 | HP:0012531 | Pain | 2 | PRPH CL E G H | 5630 | 803 | | | | ORPHA | 1 | 10 | | 9461 | 170710 | | HP:0012531 | HP:0012531 | Pain | 2 | RB1 CL E G H | 5925 | 668 | | | | ORPHA | 1 | 1113 | | 9884 | 614041 | | HP:0012531 | HP:0012531 | Pain | 2 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 1 | 3 | | 9955 | 164014 | | HP:0012531 | HP:0012531 | Pain | 2 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | 20 | | 10583 | 604385 | | HP:0012531 | HP:0012531 | Pain | 2 | SOD1 CL E G H | 6647 | 803 | | | | ORPHA | 1 | 217 | | 11179 | 147450 | | HP:0012531 | HP:0012531 | Pain | 2 | SQSTM1 CL E G H | 8878 | 803 | | | | ORPHA | 1 | 98 | | 11280 | 601530 | | HP:0012531 | HP:0012531 | Pain | 2 | TAF15 CL E G H | 8148 | 803 | | | | ORPHA | 1 | 12 | | 11547 | 601574 | | HP:0012531 | HP:0012531 | Pain | 2 | TARDBP CL E G H | 23435 | 803 | | | | ORPHA | 1 | 70 | | 11571 | 605078 | | HP:0012531 | HP:0012531 | Pain | 2 | TBK1 CL E G H | 29110 | 803 | | | | ORPHA | 1 | 137 | | 11584 | 604834 | | HP:0012531 | HP:0012531 | Pain | 2 | TP53 CL E G H | 7157 | 668 | | | | ORPHA | 1 | 541 | | 11998 | 191170 | | HP:0012531 | HP:0012531 | Pain | 2 | TREM2 CL E G H | 54209 | 803 | | | | ORPHA | 1 | 56 | | 17761 | 605086 | | HP:0012531 | HP:0012531 | Pain | 2 | TRPA1 CL E G H | 8989 | 615040 | Familial episodic pain syndrome 1 | 615040 | C3808667 | OMIM | 1 | 3 | | 497 | 604775 | | HP:0012531 | HP:0012531 | Pain | 2 | UBQLN2 CL E G H | 29978 | 803 | | | | ORPHA | 1 | 31 | | 12509 | 300264 | | HP:0012531 | HP:0012531 | Pain | 2 | UNC13A CL E G H | 23025 | 803 | | | | ORPHA | 1 | 11 | | 23150 | 609894 | | HP:0012531 | HP:0012531 | Pain | 2 | VAPB CL E G H | 9217 | 803 | | | | ORPHA | 1 | 10 | | 12649 | 605704 | | HP:0012531 | HP:0012531 | Pain | 2 | VCP CL E G H | 7415 | 803 | | | | ORPHA | 1 | 65 | | 12666 | 601023 |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0012531 | HP:0012531 | Pain | 0 | HARS CL E G H | 3035 | 488333 | | | | ORPHA | 0 | 13 | | 4816 | 142810 | | HP:0012531 | HP:0012531 | Pain | 0 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 0 | 5 | | 17975 | 609347 | | HP:0012531 | HP:0012531 | Pain | 1 | HARS CL E G H | 3035 | 488333 | | | | ORPHA | 0 | 13 | | 4816 | 142810 | | HP:0012531 | HP:0012531 | Pain | 1 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 0 | 5 | | 17975 | 609347 | | HP:0012531 | HP:0012531 | Pain | 2 | HARS CL E G H | 3035 | 488333 | | | | ORPHA | 0 | 13 | | 4816 | 142810 | | HP:0012531 | HP:0012531 | Pain | 2 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 0 | 5 | | 17975 | 609347 |
Genes (511) :ABCA1 ABCC2 ABCG5 ABCG8 ACAD9 ACADL ACADVL ACTA2 ACTG2 ADA2 AGPAT2 AGXT AIP ALAD ALDH18A1 ALDOB AMPD1 AMPD3 ANG ANKH ANKRD55 ANO5 ANXA11 AP2S1 APC APOB ARVCF ASAH1 ATP6 ATP7B ATRX ATXN2 ATXN3 BAP1 BAZ1B BCL10 BIN1 BIRC3 BMPR1A BRCA1 BRCA2 BSCL2 BTNL2 C11ORF95 C11orf95 C1S C4A C9ORF72 C9orf72 CA2 CALR CAPN3 CASQ1 CASR CAV1 CAV3 CAVIN1 CCDC78 CCN2 CCND1 CCNF CCR1 CCR6 CD19 CD247 CD55 CD81 CDC73 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEL CFAP410 CFTR CHCHD10 CHEK2 CHMP2B CHST3 CLCN1 CLCN5 CLCN7 CLDN16 CLIP2 CNBP COL11A1 COL11A2 COL17A1 COL1A1 COL2A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COMP COMT COQ7 COX1 COX2 COX3 CPA1 CPOX CPT2 CR2 CRPPA CTLA4 CTNNB1 CTRC CTSK CYP19A1 CYP27B1 CYP2R1 CYSLTR2 DAO DAXX DCC DCTN1 DDB2 DDIT3 DGUOK DIS3L2 DKK1 DLEC1 DLL3 DMD DMP1 DNA2 DNAL4 DNASE1L3 DNM2 DOLK DPM3 DSE DYSF ECE1 EDN3 EDNRB ELANE ELN EMD ENO3 ENPP1 EPCAM EPHA4 EPOR ERAP1 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERLIN1 ESR1 EWSR1 EXT1 EXT2 F12 F5 FAN1 FAS FBN1 FERMT3 FGF23 FH FHL1 FIG4 FKRP FKTN FLI1 FLVCR1 FMR1 FOS FOXE1 FOXE3 FOXP1 FSHR FTL FUS GBA GCGR GDNF GHSR GLA GLE1 GNA11 GNAQ GNAS GNE GNPTG GP1BB GPC3 GPIHBP1 GPR101 GPR35 GTF2I GTF2IRD1 GUCY2C H19 HABP2 HADHA HADHB HARS HBB HEXB HFE HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HOGA1 HPGD HPS1 HSPG2 HTRA1 ICOS IDH1 IDH2 IGH IKZF1 IL10 IL12A IL12A-AS1 IL12B IL1RN IL23R IL2RA IL2RB IL6 INHBA IRF5 JAK2 JMJD1C KIF1B KIT KLRC4 KRAS KY LACC1 LBR LDHA LDLR LDLRAP1 LEMD3 LIMK1 LMF1 LMNA LMNB2 LOX LPIN1 LPIN2 LPL LRP5 MAFB MALT1 MAT2A MATN3 MATR3 MAX MCM6 MDH2 MEFV MEN1 MESP2 MET MFAP5 MFN2 MIF MINPP1 MLH1 MLH3 MLX MLYCD MME MMP2 MMUT MPL MS4A1 MSH2 MSH6 MSMO1 MST1 MSTO1 MTMR14 MVK MYC MYF6 MYH11 MYH3 MYH7 MYL2 MYLK MYOT ND1 ND4 ND5 ND6 NEFH NEK1 NFKB1 NFKB2 NGLY1 NLRC4 NLRP12 NLRP3 NME1 NOD2 NOTCH2 NRTN NTN1 OPA3 OPLAH OPTN ORAI1 OTULIN PALB2 PALLD PCSK9 PDGFRA PFN1 PGAM2 PHEX PHKA1 PIGA PIGT PIGY PIK3CA PLCG2 PLN PMP22 PMS1 PMS2 PNPLA2 POLE POLG POLG2 POMT1 PON1 PON2 PON3 PORCN POU6F2 PPARG PPARGC1A PPOX PRDM5 PRKAR1A PRKCD PRKCSH PRKG1 PRKRA PRNP PRPH PRSS1 PRSS2 PRTN3 PSMB4 PSMB8 PSMB9 PSTPIP1 PTH1R PTPN11 PTPN2 PTPN22 PTPN3 PYGM RAD51 RB1 RBCK1 REEP2 RELA REST RET RFC2 RNASEH1 RNF168 RNF6 RNU4ATAC RREB1 RRM2B RYR1 SAA1 SCARB2 SCN11A SCN4A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC63 SEMA3C SEMA3D SEPTIN9 SERPINF2 SERPING1 SF3B1 SFRP4 SH2B3 SLC12A3 SLC25A26 SLC25A4 SLC26A2 SLC34A3 SLC39A14 SLC40A1 SLCO1B1 SLCO1B3 SLCO2A1 SMAD3 SMAD4 SNX10 SOD1 SOX10 SPAST SPG7 SPINK1 SQSTM1 STAT4 STIM1 STK11 STX16 SYNE1 SYNE2 TAF15 TARDBP TBK1 TBL2 TBX1 TBX18 TBX6 TCF4 TCIRG1 TEK TET2 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THPO TK2 TLR4 TMEM126B TMEM127 TMEM173 TMEM43 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNNC1 TNXB TP53 TRAPPC11 TRAPPC2 TREH TREM2 TREX1 TRIM28 TRIM32 TRIP13 TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPA1 TRPS1 TSC1 TSC2 TWNK TYMP TYROBP UBAC2 UBQLN2 UFD1 UFSP2 UNC13A USP8 VANGL1 VAPB VCP VDR VHL VPS13A WAS WIPF1 WNT1 WNT3A WT1 WWOX XPA XPC ZNF469 ZNF687
Diseases (399) :803 251636 668 122400 616733 612840 488333 93600 496689 609260 497764 615273 67036 401849 615552 615040 31150 234 391665 210250 99901 99900 91387 155310 615688 259900 963 100924 229600 1416 85410 85408 611307 600740 873 567 333 905 109150 39044 904 52417 174900 168829 1333 654 100998 797 617174 117 2785 3318 618129 2593 616231 676 428 220393 488650 123320 613327 614807 29073 1572 226300 99880 143 96253 609812 263463 143095 160800 255700 300009 300554 53 667 248250 602668 560 166100 215150 184840 287 90653 609162 2380 616583 166002 614135 93308 750 177170 550 79273 121300 228302 255110 352479 370980 900 33402 763 91 264700 600081 238722 910 99967 329314 85193 268882 99977 277300 98895 300376 289176 352470 615156 36412 91131 263494 615539 388 897 2686 98863 612932 144 90042 83469 321 502 131 89937 193100 29072 300696 606612 607155 370348 88628 93256 300623 319487 64739 608115 254704 77259 77261 230800 438274 314811 301500 324 57782 562 79444 94089 79443 2762 252605 171 614616 746 609015 231214 603903 232 465508 235200 56 203500 3287 36426 85414 79276 176000 52430 1525 2796 259100 203300 800 163634 296 612852 71493 729 79455 779 612933 1306 98853 98855 90153 280365 2348 151660 79087 268200 77297 609628 2924 166300 93311 607078 223100 342 249100 134610 99947 2398 248360 617018 259600 79312 616834 502423 617675 343 260920 610377 543 229 193700 1880 59135 160500 608758 609200 47045 1451 616050 616115 611762 575 617772 191900 120100 256700 90340 955 260005 617099 607685 89936 307800 447 615399 616809 614878 613874 101081 98908 610717 615139 254892 603041 613662 298 610131 86812 2092 79083 79473 176200 90354 614170 615 615559 174050 612067 280397 167800 617591 2615 256040 69126 79106 2499 397 70567 615895 171400 616479 420741 1824 85445 99735 99736 99734 682 684 168300 608390 167400 133020 97286 2901 79 100050 106100 265900 263800 616794 615418 93307 226900 157215 241530 144755 139491 606069 3111 614441 163746 608189 167250 185070 2869 175200 143400 1059 1328 131300 254875 618250 615934 604400 174810 32960 142680 613243 230839 606408 285 1501 369847 369840 615356 93284 313400 612119 2770 610448 192315 2596 225 1349 190350 538 609286 617974 600145 329475 329478 435387 167320 93160 277440 2388 906 616833 201475 528 447753 45 206549 320360 100075 169189 606072 652 276152 178400 401785 785 610618 3166 444490 268800 600142 213504 79474 238600 600 261670 300559 210571 232600 329336 255320 100093 182601 99013 160565 122600 254110 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.
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