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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   fibromyalgia
  

Disease ID 73
Disease fibromyalgia
Definition
A common nonarticular rheumatic syndrome characterized by myalgia and multiple points of focal muscle tenderness to palpation (trigger points). Muscle pain is typically aggravated by inactivity or exposure to cold. This condition is often associated with general symptoms, such as sleep disturbances, fatigue, stiffness, HEADACHES, and occasionally DEPRESSION. There is significant overlap between fibromyalgia and the chronic fatigue syndrome (FATIGUE SYNDROME, CHRONIC). Fibromyalgia may arise as a primary or secondary disease process. It is most frequent in females aged 20 to 50 years. (From Adams et al., Principles of Neurology, 6th ed, p1494-95)
Synonym
diffuse myofascial pain syndrome
fibromyalgia (disorder)
fibromyalgia (finding)
fibromyalgia (fm)
fibromyalgia (fms)
fibromyalgia -retired-
fibromyalgia [ambiguous]
fibromyalgia [disease/finding]
fibromyalgia fibromyositis syndrome
fibromyalgia syndrome
fibromyalgia, nos
fibromyalgia-fibromyositis syndrome
fibromyalgia-fibromyositis syndromes
fibromyalgias
fibromyositis
fibromyositis (disorder)
fibromyositis fibromyalgia syndrome
fibromyositis nos
fibromyositis nos (disorder)
fibromyositis, nos
fibromyositis-fibromyalgia syndrome
fibromyositis-fibromyalgia syndromes
fibrositides
fibrositis
fibrositis (disorder)
fibrositis nos
fibrositis unspecified
fibrositis unspecified (disorder)
fibrositis, nos
fms
mpd syndrome
mpds (myofascial pain dysfunction syndrome)
mpds - myofacial pain dysfunction syndrome
muscular rheumatism
muscular rheumatism (disorder)
myofacial pain dysfunction syndrome
myofascial pain dysfunction syndrome
myofascial pain syndrome
myofascial pain syndrome, diffuse
pain syndrome myofascial
rheumatism, muscular
rheumatism, tension
syndrome fibromyalgia
syndrome, fibromyalgia-fibromyositis
syndrome, fibromyositis-fibromyalgia
syndromes, fibromyalgia-fibromyositis
syndromes, fibromyositis-fibromyalgia
OMIM
DOID
ICD10
UMLS
C0016053
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:85)
C0011570  |  depression  |  25
C0016053  |  myofascial pain syndrome  |  14
C0003873  |  rheumatoid arthritis  |  9
C0003467  |  anxiety  |  6
C0003864  |  arthritis  |  5
C0679466  |  cognitive deficits  |  3
C0041696  |  major depression  |  3
C0022104  |  irritable bowel syndrome  |  3
C0002020  |  alexithymia  |  3
C0037317  |  sleep disturbance  |  3
C0028754  |  obesity  |  3
C0851578  |  sleep disorders  |  3
C0038013  |  ankylosing spondylitis  |  3
C0149931  |  migraine  |  3
C0010068  |  coronary heart disease  |  2
C0004936  |  mental disorders  |  2
C0006142  |  breast cancer  |  2
C0018799  |  heart disease  |  2
C0035435  |  rheumatic disease  |  2
C0039494  |  temporomandibular disorder  |  2
C0035258  |  restless legs  |  2
C0035258  |  restless legs syndrome (rls)  |  2
C0035435  |  rheumatic diseases  |  2
C0039494  |  temporomandibular disorders  |  2
C0038436  |  posttraumatic stress disorder  |  2
C1527336  |  sjogren's syndrome  |  2
C0035258  |  restless legs syndrome  |  2
C0019158  |  hepatitis  |  2
C0022104  |  irritable bowel  |  2
C0029408  |  osteoarthritis  |  2
C0149931  |  migraine headache  |  1
C0006325  |  bruxism  |  1
C0037317  |  sleep disturbances  |  1
C0009241  |  cognitive disorders  |  1
C0149931  |  migraine headaches  |  1
C0003864  |  inflammatory arthritis  |  1
C0019196  |  hepatitis c infection  |  1
C0949690  |  spondyloarthritis  |  1
C0039263  |  takayasu's arteritis  |  1
C0042485  |  venous insufficiency  |  1
C0011847  |  diabetes  |  1
C0042870  |  vitamin d defic  |  1
C0029455  |  osteopoikilosis  |  1
C0041696  |  major depressive disorder  |  1
C0020502  |  hyperparathyroidism  |  1
C0042870  |  vitamin d deficiency  |  1
C0014175  |  endometriosis  |  1
C0314719  |  dry eye  |  1
C1510471  |  hypovitaminosis  |  1
C0015464  |  facial nerve palsy  |  1
C0003872  |  psoriatic arthritis  |  1
C0007222  |  cardiovascular disease  |  1
C0221757  |  alpha-1-antitrypsin deficiency  |  1
C0442874  |  neuropathy  |  1
C0015674  |  chronic fatigue syndrome  |  1
C0031069  |  familial mediterranean fever  |  1
C0003469  |  anxiety disorders  |  1
C0221002  |  primary hyperparathyroidism  |  1
C0032002  |  pituitary disorders  |  1
C0030305  |  pancreatitis  |  1
C0007570  |  celiac disease  |  1
C0026267  |  mitral valve prolapse  |  1
C0004943  |  behcet's disease  |  1
C0242490  |  enthesopathy  |  1
C0019196  |  hepatitis c  |  1
C0021053  |  immune disease  |  1
C0035579  |  hypovitaminosis d  |  1
C0013421  |  dystonia  |  1
C0700594  |  radiculopathy  |  1
C0221757  |  aat deficiency  |  1
C0016053  |  fibromyalgia  |  1
C0042769  |  virus infection  |  1
C0020676  |  hypothyroidism  |  1
C0038012  |  spondylitis  |  1
C0152078  |  pelvic pain syndrome  |  1
C0002395  |  alzheimer disease  |  1
C0002895  |  sickle cell disease  |  1
C0018916  |  angioma  |  1
C0001339  |  acute pancreatitis  |  1
C0028754  |  adiposity  |  1
C0221757  |  alpha-1-antitrypsin def  |  1
C0019163  |  hepatitis b  |  1
C0003469  |  anxiety disorder  |  1
C0042373  |  vascular disease  |  1
C0035435  |  rheumatism  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1436  |  CSF1R  |  OMIM
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:11)
1312  |  COMT  |  CIPHER
3356  |  HTR2A  |  CIPHER
3359  |  HTR3A  |  CIPHER
9177  |  HTR3B  |  CIPHER
3565  |  IL4  |  CIPHER
4128  |  MAOA  |  CIPHER
4846  |  NOS3  |  CIPHER
5054  |  SERPINE1  |  CIPHER
6531  |  SLC6A3  |  CIPHER
6532  |  SLC6A4  |  CIPHER
6869  |  TACR1  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:121)
10555  |  AGPAT2  |  2.059  |  DISEASES
238  |  ALK  |  2.142  |  DISEASES
257  |  ALX3  |  1.524  |  DISEASES
11273  |  ATXN2L  |  1.974  |  DISEASES
554  |  AVPR2  |  1.394  |  DISEASES
627  |  BDNF  |  2.628  |  DISEASES
627  |  BDNF  |  2.617  |  DISEASES
388552  |  BLOC1S3  |  2.018  |  DISEASES
26580  |  BSCL2  |  1.855  |  DISEASES
149466  |  C1orf210  |  2.132  |  DISEASES
778  |  CACNA1F  |  1.51  |  DISEASES
796  |  CALCA  |  1.291  |  DISEASES
820  |  CAMP  |  2.776  |  DISEASES
820  |  CAMP  |  1.111  |  DISEASES
388372  |  CCL4L1  |  1.502  |  DISEASES
388372  |  CCL4L1  |  1.234  |  DISEASES
914  |  CD2  |  2.667  |  DISEASES
959  |  CD40LG  |  2.765  |  DISEASES
921  |  CD5  |  2.424  |  DISEASES
1041  |  CDSN  |  3.418  |  DISEASES
63924  |  CIDEC  |  2.458  |  DISEASES
1312  |  COMT  |  3.818  |  DISEASES
56259  |  CTNNBL1  |  1.233  |  DISEASES
2833  |  CXCR3  |  1.039  |  DISEASES
50626  |  CYHR1  |  2.267  |  DISEASES
1544  |  CYP1A2  |  1.131  |  DISEASES
1565  |  CYP2D6  |  1.903  |  DISEASES
9879  |  DDX46  |  2.417  |  DISEASES
1805  |  DPT  |  1.575  |  DISEASES
1806  |  DPYD  |  1.02  |  DISEASES
23741  |  EID1  |  1.221  |  DISEASES
954  |  ENTPD2  |  1.092  |  DISEASES
51013  |  EXOSC1  |  1.292  |  DISEASES
26190  |  FBXW2  |  1.847  |  DISEASES
11153  |  FICD  |  1.402  |  DISEASES
2332  |  FMR1  |  2.128  |  DISEASES
221937  |  FOXK1  |  1.858  |  DISEASES
2556  |  GABRA3  |  1.582  |  DISEASES
2624  |  GATA2  |  2.287  |  DISEASES
2633  |  GBP1  |  1.042  |  DISEASES
51738  |  GHRL  |  1.25  |  DISEASES
2879  |  GPX4  |  3.022  |  DISEASES
51696  |  HECA  |  1.072  |  DISEASES
3250  |  HPR  |  1.038  |  DISEASES
3356  |  HTR2A  |  2.909  |  DISEASES
3359  |  HTR3A  |  4.159  |  DISEASES
3363  |  HTR7  |  3.067  |  DISEASES
3620  |  IDO1  |  1.728  |  DISEASES
3456  |  IFNB1  |  2.451  |  DISEASES
3486  |  IGFBP3  |  1.691  |  DISEASES
8518  |  IKBKAP  |  1.286  |  DISEASES
3586  |  IL10  |  2.407  |  DISEASES
3563  |  IL3RA  |  1.864  |  DISEASES
50618  |  ITSN2  |  2.972  |  DISEASES
3713  |  IVL  |  1.451  |  DISEASES
102723508  |  KANTR  |  2.93  |  DISEASES
102723508  |  KANTR  |  2.087  |  DISEASES
3776  |  KCNK2  |  2.488  |  DISEASES
8564  |  KMO  |  1.044  |  DISEASES
348801  |  LNP1  |  1.661  |  DISEASES
4094  |  MAF  |  1.849  |  DISEASES
4128  |  MAOA  |  1.648  |  DISEASES
5609  |  MAP2K7  |  1.288  |  DISEASES
4191  |  MDH2  |  1.441  |  DISEASES
79104  |  MEG8  |  2.151  |  DISEASES
8972  |  MGAM  |  2.044  |  DISEASES
4599  |  MX1  |  1.188  |  DISEASES
23040  |  MYT1L  |  1.67  |  DISEASES
79903  |  NAA60  |  2.439  |  DISEASES
89796  |  NAV1  |  1.448  |  DISEASES
89795  |  NAV3  |  1.57  |  DISEASES
4686  |  NCBP1  |  1.322  |  DISEASES
4803  |  NGF  |  2.165  |  DISEASES
4803  |  NGF  |  1.51  |  DISEASES
114548  |  NLRP3  |  1.186  |  DISEASES
654364  |  NME1-NME2  |  1.342  |  DISEASES
594857  |  NPS  |  3.673  |  DISEASES
594857  |  NPS  |  1.605  |  DISEASES
4306  |  NR3C2  |  1.141  |  DISEASES
9369  |  NRXN3  |  1.309  |  DISEASES
4914  |  NTRK1  |  1.217  |  DISEASES
4988  |  OPRM1  |  2.537  |  DISEASES
5005  |  ORM2  |  1.596  |  DISEASES
5025  |  P2RX4  |  1.847  |  DISEASES
10606  |  PAICS  |  1.426  |  DISEASES
55010  |  PARPBP  |  3.225  |  DISEASES
5223  |  PGAM1  |  1.1  |  DISEASES
5406  |  PNLIP  |  2.544  |  DISEASES
5478  |  PPIA  |  1.114  |  DISEASES
5535  |  PPP3R2  |  2.48  |  DISEASES
5550  |  PREP  |  2.486  |  DISEASES
5627  |  PROS1  |  2.399  |  DISEASES
5696  |  PSMB8  |  2.718  |  DISEASES
9051  |  PSTPIP1  |  3.425  |  DISEASES
284119  |  PTRF  |  1.868  |  DISEASES
6014  |  RIT2  |  1.065  |  DISEASES
57142  |  RTN4  |  1.617  |  DISEASES
6336  |  SCN10A  |  1.314  |  DISEASES
6335  |  SCN9A  |  2.702  |  DISEASES
5265  |  SERPINA1  |  4.526  |  DISEASES
59307  |  SIGIRR  |  1.161  |  DISEASES
6533  |  SLC6A6  |  2.694  |  DISEASES
23583  |  SMUG1  |  1.925  |  DISEASES
6633  |  SNRPD2  |  1.529  |  DISEASES
6635  |  SNRPE  |  2.592  |  DISEASES
6635  |  SNRPE  |  1.899  |  DISEASES
6693  |  SPN  |  1.913  |  DISEASES
8676  |  STX11  |  1.118  |  DISEASES
6863  |  TAC1  |  4.708  |  DISEASES
6863  |  TAC1  |  3.046  |  DISEASES
54790  |  TET2  |  1.319  |  DISEASES
7072  |  TIA1  |  4.339  |  DISEASES
7124  |  TNF  |  3.058  |  DISEASES
7133  |  TNFRSF1B  |  2.086  |  DISEASES
1861  |  TOR1A  |  1.266  |  DISEASES
51592  |  TRIM33  |  1.046  |  DISEASES
7442  |  TRPV1  |  2.319  |  DISEASES
162514  |  TRPV3  |  1.241  |  DISEASES
706  |  TSPO  |  1.501  |  DISEASES
11169  |  WDHD1  |  1.207  |  DISEASES
10269  |  ZMPSTE24  |  1.791  |  DISEASES
Locus(Waiting for update.)
Disease ID 73
Disease fibromyalgia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:52)
HP:0012531  |  Pain  |  76
HP:0000716  |  Depression  |  25
HP:0012532  |  Chronic pain  |  17
HP:0012378  |  Fatigue  |  11
HP:0001370  |  Rheumatoid arthritis  |  9
HP:0000739  |  Anxiety  |  6
HP:0100543  |  Cognitive deficits  |  5
HP:0003418  |  Back pain  |  5
HP:0001369  |  Arthritis  |  5
HP:0002076  |  Migraine headaches  |  4
HP:0002315  |  Headaches  |  4
HP:0001513  |  Obesity  |  3
HP:0012115  |  Liver inflammation  |  3
HP:0002360  |  Sleep disturbance  |  3
HP:0003419  |  Low back pain  |  3
HP:0003326  |  Muscle pain  |  3
HP:0012452  |  Restless legs  |  2
HP:0002459  |  Dysautonomia  |  2
HP:0002758  |  Osteoarthritis  |  2
HP:0003002  |  Breast carcinoma  |  2
HP:0008200  |  Primary hyperparathyroidism  |  1
HP:0012668  |  Situational syncope  |  1
HP:0001634  |  Mitral valve prolapse  |  1
HP:0001332  |  Dystonia  |  1
HP:0003287  |  Abnormality of mitochondrial metabolism  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0003763  |  Bruxism  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0002527  |  Falls  |  1
HP:0100512  |  Vitamin D deficiency  |  1
HP:0010739  |  Osteopoikilosis  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0030016  |  Dyspareunia  |  1
HP:0012721  |  Venous malformations  |  1
HP:0005293  |  Venous insufficiency  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0001382  |  Hyperextensible joints  |  1
HP:0001262  |  Somnolence  |  1
HP:0000843  |  Hyperparathyroidism  |  1
HP:0002608  |  Celiac disease  |  1
HP:0002354  |  Memory loss  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0002511  |  Late-onset form of familial Alzheimer disease  |  1
HP:0001733  |  Pancreatic inflammation  |  1
HP:0001945  |  Fever  |  1
HP:0012329  |  Angioblastoma  |  1
HP:0100785  |  Insomnia  |  1
HP:0030127  |  Endometriosis  |  1
HP:0012089  |  Arteritis  |  1
Disease ID 73
Disease fibromyalgia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:53)
C2678504  |  osteoporosis
C2598155  |  pain
C2364133  |  infection
C2364072  |  depression
C2364051  |  fatigue
C2096315  |  headache
C2020637  |  chronic pain
C1963237  |  insomnia
C1963185  |  obesity
C1963064  |  anxiety
C1839611  |  n syndrome
C1720505  |  adult growth hormone deficiency
C1718184  |  pain symptoms
C1335778  |  retroperitoneal leiomyosarcoma
C1269683  |  major depressive disorder
C0851578  |  sleep disturbances
C0851578  |  sleep disorders
C0813142  |  circadian rhythm disorders
C0741585  |  body pain
C0717360  |  lyme disease
C0700361  |  distress
C0700201  |  sleep disturbance
C0684239  |  tenderness
C0575064  |  muscle tenderness
C0559031  |  functional gastrointestinal disorders
C0553844  |  keratoconjunctivitis sicca
C0549622  |  sexual dysfunction
C0521991  |  stress symptoms
C0497552  |  nervous system abnormalities
C0427008  |  stiffness
C0426576  |  gastrointestinal symptoms
C0278140  |  severe pain
C0262405  |  cerebral dysfunction
C0235704  |  adynamia
C0235169  |  excitability
C0234244  |  somatic pain
C0231528  |  muscular pain
C0151825  |  skeletal pain
C0151293  |  chronic headache
C0149645  |  cervical myelopathy
C0086132  |  depressive symptoms
C0085616  |  vasospasm
C0039494  |  temporomandibular disorders
C0039494  |  temporomandibular disorder
C0035258  |  restless legs syndrome (rls)
C0034735  |  raynaud's syndrome
C0034735  |  raynaud phenomenon
C0025322  |  early menopause
C0022104  |  irritable bowel syndrome
C0013363  |  dysautonomia
C0007384  |  cataplexy
C0007286  |  carpal tunnel syndrome
C0004364  |  autoimmune diseases
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:24)
C0030193  |  pain  |  73
C0011570  |  depression  |  25
C0150055  |  chronic pain  |  16
C0015672  |  fatigue  |  11
C0086132  |  depressive symptoms  |  6
C0003467  |  anxiety  |  6
C1839611  |  n syndrome  |  3
C0028754  |  obesity  |  3
C0851578  |  sleep disorders  |  3
C0018681  |  headache  |  3
C0022104  |  irritable bowel syndrome  |  3
C0035258  |  restless legs syndrome (rls)  |  2
C0037317  |  sleep disturbance  |  2
C0039494  |  temporomandibular disorders  |  2
C0234233  |  tenderness  |  1
C0741585  |  body pain  |  1
C0427008  |  stiffness  |  1
C0004364  |  autoimmune diseases  |  1
C0231303  |  distress  |  1
C0917801  |  insomnia  |  1
C0024198  |  lyme disease  |  1
C0037317  |  sleep disturbances  |  1
C0041696  |  major depressive disorder  |  1
C0235169  |  excitability  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:22)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1799971246715024988OPRM1umls:C0016053BeFreeAssessment of opioid receptor μ1 gene A118G polymorphism and its association with pain intensity in patients with fibromyalgia.0.0056342662014OPRM16154039662AG
rs1799983169519454846NOS3umls:C0016053BeFreeNo evidence for an association between the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and fibromyalgia syndrome.0.0029957922007NOS37150999023TG
rs3771863257860416869TACR1umls:C0016053BeFreeThe rs3771863 single nucleotide polymorphism of the TACR1 gene is associated to a lower risk of sicca syndrome in fibromyalgia patients.0.0026384742014TACR1;LOC105374811275192588CT
rs38660211821773883627BDNFumls:C0016053BeFreeA brain-derived neurotrophic factor polymorphism Val66Met identifies fibromyalgia syndrome subgroup with higher body mass index and C-reactive protein.0.0029957922012NANANANANA
rs386602276211204873356HTR2Aumls:C0016053BeFreeThis meta-analysis demonstrates that the 5-HT2A receptor 102T/C polymorphism confers susceptibility to fibromyalgia.0.0039956832012NANANANANA
rs386602276117328593356HTR2Aumls:C0016053BeFreeAssociation of T102C polymorphism of the 5-HT2A receptor gene with psychiatric status in fibromyalgia syndrome.0.0039956832001NANANANANA
rs386602276221245933356HTR2Aumls:C0016053BeFreeInfluence of the interaction between environmental quality and T102C SNP in the HTR2A gene on fibromyalgia susceptibility.0.0039956832011NANANANANA
rs386602276105278093356HTR2Aumls:C0016053BeFreeThe T102C polymorphism of the 5-HT2A-receptor gene in fibromyalgia.0.0039956831999NANANANANA
rs4680230259811312COMTumls:C0016053BeFreeCatechol-O-methyltransferase Val158Met polymorphism influences anxiety, depression, and disability, but not pressure pain sensitivity, in women with fibromyalgia syndrome.0.0234510792012COMT;MIR47612219963748GA
rs4680247620911312COMTumls:C0016053BeFreeClinical symptoms in fibromyalgia are associated to catechol-O-methyltransferase (COMT) gene Val158Met polymorphism.0.0234510792015COMT;MIR47612219963748GA
rs4680211204931312COMTumls:C0016053BeFreeThese results suggest that SNPs rs4680 and rs4818 of the COMT gene may be associated with fibromyalgia and pain sensitivity in FS Brazilian patients.0.0234510792012COMT;MIR47612219963748GA
rs4680200744401312COMTumls:C0016053BeFreeThe relationship between a common catechol-O-methyltransferase (COMT) polymorphism val(158) met and fibromyalgia.0.0234510792009COMT;MIR47612219963748GA
rs4680245039771312COMTumls:C0016053BeFreeHas catechol-O-methyltransferase genotype (Val158Met) an influence on endocrine, sympathetic nervous and humoral immune systems in women with fibromyalgia syndrome?0.0234510792014COMT;MIR47612219963748GA
rs4680181962443356HTR2Aumls:C0016053BeFreeThe objective of this study was to determine the potential effects of single nucleotide polymorphisms (SNPs) in catechol-O-methyltransferase (COMT) (rs4680) and 5-hydroxytryptamine (serotonin) 2A (5-HT2A) receptor (rs6313 and rs6311) genes on susceptibility to FMS.0.0039956832008COMT;MIR47612219963748GA
rs4680249518801312COMTumls:C0016053BeFreeAssociation between the COMT Val158Met polymorphism and fibromyalgia susceptibility and fibromyalgia impact questionnaire score: a meta-analysis.0.0234510792014COMT;MIR47612219963748GA
rs4818211204931312COMTumls:C0016053BeFreeThese results suggest that SNPs rs4680 and rs4818 of the COMT gene may be associated with fibromyalgia and pain sensitivity in FS Brazilian patients.0.0234510792012COMT;MIR47612219963684CG,T
rs6311181962443356HTR2Aumls:C0016053BeFreeThe objective of this study was to determine the potential effects of single nucleotide polymorphisms (SNPs) in catechol-O-methyltransferase (COMT) (rs4680) and 5-hydroxytryptamine (serotonin) 2A (5-HT2A) receptor (rs6313 and rs6311) genes on susceptibility to FMS.0.0039956832008HTR2A1346897343CT
rs6313181962443356HTR2Aumls:C0016053BeFreeThe objective of this study was to determine the potential effects of single nucleotide polymorphisms (SNPs) in catechol-O-methyltransferase (COMT) (rs4680) and 5-hydroxytryptamine (serotonin) 2A (5-HT2A) receptor (rs6313 and rs6311) genes on susceptibility to FMS.0.0039956832008HTR2A1346895805GA
rs6313221245933356HTR2Aumls:C0016053BeFreeInfluence of the interaction between environmental quality and T102C SNP in the HTR2A gene on fibromyalgia susceptibility.0.0039956832011HTR2A1346895805GA
rs6313117328593356HTR2Aumls:C0016053BeFreeAssociation of T102C polymorphism of the 5-HT2A receptor gene with psychiatric status in fibromyalgia syndrome.0.0039956832001HTR2A1346895805GA
rs6313211204873356HTR2Aumls:C0016053BeFreeThis meta-analysis demonstrates that the 5-HT2A receptor 102T/C polymorphism confers susceptibility to fibromyalgia.0.0039956832012HTR2A1346895805GA
rs6313105278093356HTR2Aumls:C0016053BeFreeThe T102C polymorphism of the 5-HT2A-receptor gene in fibromyalgia.0.0039956831999HTR2A1346895805GA
GWASdb Annotation(Total Genotypes:13)
Chr Pos SNP_Id RefGene EnsemblGene ENCODE_Factor ENCODE_TFBS Chromosome_interaction GTEx_eQTL SNP_TFBS_affinity_GWAS3D SNP_miRNA_target_affinity_PolymiRTS SNP_splicing_effect_Skippy SNP_splicing_effect_MutPred_Splice SNP_ns_protein_effect_dbNSFP SNP_syn_effect_Silva SNP_phosphorylation_effect_PhosSNP PhastCons_score PhyloP_score GERP++_RS Segway_state Ancestral_allele ESP_AF ESP_AFR ESP_AFR ESP_EUR TG_ASN TG_AMR TG_AFR TG_EUR Type Consequence bStatistic EncH3K27Ac EncH3K4Me1 EncH3K4Me3 EncNucleo OMIM Clinvar
5149440045rs12516676NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000515068,ENSG00000182578ENST00000513609,ENSG00000182578ENST00000515239,ENSG00000182578NANANANAAsg1-DBD-primary,7.9738Asg1-DBD-primary,1.3568Asg1-DBD-primary,24.186Asg1-DBD-primary,66.5157Asg1-DBD-primary,4.0317NANANANANANA0.000-0.741-3.87R3CNANANANANANANANA
5149443298rs216140NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000513609,ENSG00000182578ENST00000515239,ENSG00000182578NANANANAGat1-primary,8.3728Gzf3-primary,10.1043Rdr1-DBD-primary,1.6969Tbf1-DBD-primary,7.3762Tec1-primary,5.0564NANANANANANA0.000-1.885-8.27R3TNANANANANANANANATranscript
5149445595rs216145NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000513609,ENSG00000182578ENST00000515239,ENSG00000182578TFP.MAXNANANAAro80-primary,1.7456Ecm22-primary,2.4161Gal4-primary,1.6751Gal4-primary,1.3214Gsm1-FL-primary,1.5537NANANANANANA0.000-0.207-1.11R5GNANANANANANANANARegulatoryFeature
5149445921rs216146NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000513609,ENSG00000182578ENST00000515239,ENSG00000182578TFP.MAXMCV-3NANANAGat1-primary,1.6676Gzf3-primary,1.6616Pbf1-primary,3.7868Skn7-primary,1.4239Skn7-primary,1.609NANANANANANA0.0030.7372.25R1TNANANANANANANANA
5149446487rs216148NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000513609,ENSG00000182578ENST00000515239,ENSG00000182578TFP.MAXTFP.MYCNANANALM152,2.1818LM152,2.2438LM197,2.7663Pax5,1.4035PPARG-RXRA,3.2188NANANANANANA0.0010.3681.16TF0ANANANA0.2900.4400.2500.4700.090
5149447628rs216150NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000513609,ENSG00000182578ENST00000515239,ENSG00000182578MCV-2NANANALM7,9.6604LM14,5.7656LM23,9.2765LM46,1.7805LM46,1.7393NANANANANANA0.000-0.398-1.47R3GNANANANANANANANATranscript
5149450132rs10079250NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578TFP.CTCFTFP.RAD21NANANACgd2_3490,3.652Cgd2_3490,10.0422Cha4-primary,59.2578Leu3-primary,2.8451Pdr1-DBD-primary,3.4557NANANACSF1R,T,G,H,P,0.589,0.97,0.983215,0.264712CSF1R,T,C,H,R,0.442,0.95,0.983215,0.090019CSF1R,T,A,H,L,0.006,0.96,0.983215,0.316504NANM_005211,TypeII+,CAC->CGC,H->R,3.25NM_005211,TypeII+,CAC->CGC,H->R,2.75NM_005211,TypeII+,CAC->CGC,H->R,4.226NM_005211,TypeII+,CAC->CGC,H->R,3.316NM_005211,TypeII-,CAC->CGC,H->R,2.364NM_005211,TypeIII+,CAC->CGC,H->R,3.76NM_005211,TypeIII+,CAC->CGC,H->R,3.967NM_005211,TypeIII+,CAC->CGC,H->R,5.411NM_005211,TypeIII+,CAC->CGC,H->R,2.273NM_005211,TypeIII+,CAC->CGC,H->R,4.462NM_005211,TypeIII+,CAC->CGC,H->R,6NM_005211,TypeIII+,CAC->CGC,H->R,2.593NM_005211,TypeIII+,CAC->CGC,H->R,3.526NM_005211,TypeIII-,CAC->CGC,H->R,2.923
5149454918rs12651699NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578NANANANALM35,5.1226LM52,2.3039LM77,5.0038LM85,3.3137LM145,10.0665NANANANANANA0.0060.0000R1CNANANANANANANANATranscriptINTRONIC667
5149459574rs13188584NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000504875,ENSG00000182578ENST00000394307,ENSG00000182578ENST00000502660,ENSG00000182578ENST00000511344,ENSG00000182578MCV-3NANANAAsg1-DBD-primary,23.1567Gal4-primary,1.5472Hal9-primary,6.5637Hal9-primary,6.5637Mbp1-primary,1.5609NANANANANANA0.000-0.742-5.46R5CNANANANANANANANATranscript
5149481535rs1465692NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000511344,ENSG00000182578NANAchr5,149480001,149490000,chr5,149460001,149470000,27,Hi-Cchr5,149480001,149490000,chr5,177340001,177350000,38,Hi-Cchr5,149480001,149490000,chr7,102150001,102160000,194,Hi-Cchr5,149480001,149490000,chr5,154190001,154200000,5,Hi-CNAFhl1-DBD-primary,2.456LM33,2.4677LM44,1.8498LM46,1.3889LM59,1.5167NANANANANANA0.0041.2141.97R2TNANANANANANANANAIntergenic
5149485772rs6865659NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000511344,ENSG00000182578MCV-3NAchr5,149480001,149490000,chr5,149460001,149470000,27,Hi-Cchr5,149480001,149490000,chr5,177340001,177350000,38,Hi-Cchr5,149480001,149490000,chr7,102150001,102160000,194,Hi-Cchr5,149480001,149490000,chr5,154190001,154200000,5,Hi-CNALM58,5.9133LM165,4.6582LM174,7.3932dl_1,2.3765Gfi,1.3755NANANANANANA0.0040.7132.4R5ANANANANANANANANATranscript
5149489110rs1010101NM_005211,CSF1RENST00000286301,ENSG00000182578ENST00000511344,ENSG00000182578MCV-6NAchr5,149480001,149490000,chr5,149460001,149470000,27,Hi-Cchr5,149480001,149490000,chr5,177340001,177350000,38,Hi-Cchr5,149480001,149490000,chr7,102150001,102160000,194,Hi-Cchr5,149480001,149490000,chr5,154190001,154200000,5,Hi-CNALM12,1.8026LM31,1.6547LM44,1.3206LM54,1938.45LM117,2.1234NANANANANANA0.0010.0130.133R4CNANANANANANANANAIntergenic
5149492455rs11740298NM_005211,CSF1RNM_002609,PDGFRBENST00000286301,ENSG00000182578ENST00000511344,ENSG00000182578ENST00000261799,ENSG00000113721ENST00000520851,ENSG00000113721TFP.TFAP2ATFP.TFAP2CTFP.SMARCC1TFP.STAT3NANANAAft1-primary,2.824Ceh-22,1.3236Cgd2_3490,1.341Cha4-primary,3.4829Rap1-FL-primary,1.6087NANANANANANA0.000-0.119-0.622TF1CNANANANANANA
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 73
Disease fibromyalgia
Case(Waiting for update.)