DisGeNET - a database of gene-disease associations

Arthralgia, C0003862

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs151344517

AFG3L2 ; TUBB6 ; LOC107985154

0.700

CausalMutation

CLINVAR

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

20725928

2010

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

16444271

2006

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

17030239

2006

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.

16815158

2006

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

16550169

2006

dbSNP:

rs1163944538

TMEM94

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

TMEM94

0.700

CausalMutation

CLINVAR

dbSNP:

rs148636776

ATXN2 ; SH2B3

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553933367

ANTXR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555876283

PIGT ; LOC107985405

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs1569548274

MECP2

0.700

CausalMutation

CLINVAR

dbSNP:

rs199469465

SRCAP

0.700

CausalMutation

CLINVAR

dbSNP:

rs759191907

ENG ; LOC105379841

0.700

CausalMutation

CLINVAR

dbSNP:

rs776974834

PIGT ; LOC107985405

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs61752717

MEFV

0.020

GeneticVariation

BEFREE

Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations.

30284126

2019

dbSNP:

rs61752717

MEFV

0.020

GeneticVariation

BEFREE

Arthralgia or arthritis was significantly higher in M694V carriers than in non-M694V carriers (p < 0.05).

18300119

2008

dbSNP:

rs1800562

HFE ; LOC108783645

0.020

GeneticVariation

BEFREE

We found no relation of arthralgia or joint pathology to C282Y, but compound heterozygotes had a significantly higher frequency of arthralgia (2.9; 1.0 to 9.3), chondrocalcinosis in hip joints (6.5; 1.8 to 22.3), and an increased number of osteophytes in knee (6.9+/-1.2, n = 5 vs 2.4+/-0.1) joints at a later age (>65 years).

17284543

2007

dbSNP:

rs1800562

HFE ; LOC108783645

0.020

GeneticVariation

BEFREE

The 124 C282Y homozygotes who filled out the written questionnaire and the 17 C282Y homozygotes who completed the physician double-blind interview reported no significantly higher rates of arthritis or joint pain, abdominal pain, arrhythmias, darkening of skin, or other symptoms traditionally associated with hemochromatosis compared with the 22,429 wild-type controls who filled out the written questionnaire and 29 wild-type controls who completed the double-blind interview.

12059121

2002

dbSNP:

rs1042173

SLC6A4

0.010

GeneticVariation

BEFREE

In 5HTT, the rs1042173 was associated with painful TMD (arthralgia and myofascial pain) (OR<sub>c</sub> = 1.97; CI 95%: 1.02-3.77; P = 0.04).

30811655

2019

dbSNP:

rs2369049

TCL1A

0.010

GeneticVariation

BEFREE

Specific genetic variations at loci rs4680 and rs2369049 are associated with response to acupuncture-type intervention for management of arthralgia.

29912452

2019

dbSNP:

rs28940580

MEFV

0.010

GeneticVariation

BEFREE

Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain.

31443670

2019

dbSNP:

rs4680

COMT ; MIR4761

0.010

GeneticVariation

BEFREE

Specific genetic variations at loci rs4680 and rs2369049 are associated with response to acupuncture-type intervention for management of arthralgia.

29912452

2019

dbSNP:

rs1676303

0.010

GeneticVariation

BEFREE

For the ESRRB (rs1676303) gene, an association was observed between the CC (cytosine/cytosine) genotype and the presence of articular TMDs associated with other chronic arthralgia (P = .02).

29175417

2018

dbSNP:

rs1008805

CYP19A1 ; MIR4713HG

0.010

GeneticVariation

BEFREE

The CYP19A1 rs1008805 GG genotype was strongly and inversely associated with arthralgia (odds ratio = 0.24 [0.09-0.65], P = 0.004); however, SNPs near the TCL1A gene were not linked to this adverse effect.

27747906

2017

dbSNP:

rs858339

ENPP1

0.010

GeneticVariation

BEFREE

Diagnoses of disc displacement with reduction, masticatory muscle myalgia, and arthralgia were highly prevalent in the asymmetry groups, and all had strong statistical associations with ENPP1 rs858339.

29103441

2017