Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 Biomarker GENOMICS_ENGLAND Four and a half LIM domain protein signaling and cardiomyopathy. 29926425

2018

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 GermlineCausalMutation ORPHANET X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 18179901

2008

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 GeneticVariation UNIPROT X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 18179901

2008

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 GeneticVariation BEFREE Four-and-a-half LIM domain 1 gene (FHL1) has recently been identified as the causative gene for reducing body myopathy (RBM), X-linked scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). 18952429

2008

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 CausalMutation CLINVAR

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 Biomarker CTD_human

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 356
Gene Symbol: FASLG
FASLG
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE These results suggested that FAS/FASL polymorphisms might significantly modify SPM risk among patients with SCCHN in a tumor site-specific manner. 26858129

2016

Entrez Id: 355
Gene Symbol: FAS
FAS
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE The stratified analysis showed that smoking status differently modified the associations between FAS/FASL polymorphisms and risk of SPM among index non-OPC from OPC patients. 26858129

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE The results suggest an increased risk of SPM after index SCCHN with both p53 and p73 polymorphisms individually and in combination. 21717430

2012

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE We investigated whether MC1R genotype modifies the effect of sun exposure on melanoma risk in 1,018 cases with multiple melanomas (MPM) and 1,875 controls with one melanoma (SPM). 20721616

2010

Entrez Id: 7157
Gene Symbol: TP53
TP53
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE Furthermore, stratification analyses showed that the risk of SPM associated with p53 variant genotypes (Arg/Pro + Pro/Pro) was more pronounced in several subgroups. 20225330

2010

Entrez Id: 355
Gene Symbol: FAS
FAS
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE The FAS and FASLG polymorphisms may serve as a susceptible marker for SCCHN patients at high SPM risk. 20501759

2010

Entrez Id: 356
Gene Symbol: FASLG
FASLG
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE The FAS and FASLG polymorphisms may serve as a susceptible marker for SCCHN patients at high SPM risk. 20501759

2010

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.020 GeneticVariation BEFREE We examined the distribution of MC1R variants and median ages at melanoma diagnosis in multiple primary melanoma (MPM) and single primary melanoma (SPM) patients. 16172233

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE The risk of SPM was significantly related to the following demographical and clinical variables: age (40-59 vs. 18-39, HR = 1.33; 60-79 vs. 18-39, HR = 2.39; ≥80 vs. 18-39, HR = 2.84), race (black vs. white, HR = 1.12), histological type (lobular BC vs. ductal BC, HR = 1.15), radiotherapy (HR = 1.33), marital status (married vs. single, HR = 0.88) and estrogen receptor status (positive vs. negative, HR = 0.85). 30861567

2020

Entrez Id: 240
Gene Symbol: ALOX5
ALOX5
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 Biomarker BEFREE Besides expected on-target actions, we found that: <i>1</i>) COX or 15-LOX-1 inhibitors elevate inflammatory leukotriene levels, <i>2</i>) FLAP and 5-LOX inhibitors reduce leukotrienes in M1 but less so in M2 macrophages, <i>3</i>) zileuton blocks resolution-initiating SPM biosynthesis, whereas FLAP inhibition increases SPM levels, and <i>4</i>) that the 15-LOX-1 inhibitor 3887 suppresses SPM formation in M2 macrophages. 30735438

2019

Entrez Id: 246
Gene Symbol: ALOX15
ALOX15
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 Biomarker BEFREE Besides expected on-target actions, we found that: <i>1</i>) COX or 15-LOX-1 inhibitors elevate inflammatory leukotriene levels, <i>2</i>) FLAP and 5-LOX inhibitors reduce leukotrienes in M1 but less so in M2 macrophages, <i>3</i>) zileuton blocks resolution-initiating SPM biosynthesis, whereas FLAP inhibition increases SPM levels, and <i>4</i>) that the 15-LOX-1 inhibitor 3887 suppresses SPM formation in M2 macrophages. 30735438

2019

Entrez Id: 840
Gene Symbol: CASP7
CASP7
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE We genotyped 7 selected, potentially functional single nucleotide polymorphisms (SNPs) located in the microRNA binding sites of the 3' untranslational region (UTR; 2 in CASP3, 1 in CASP6, and 4 in CASP7) and evaluated their associations first with risk of SCCHN in 1066 patients with SCCHN and 1074 cancer-free control subjects and then with SPM in 846 patients in the same non-Hispanic white study population. 23271051

2013

Entrez Id: 839
Gene Symbol: CASP6
CASP6
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE We genotyped 7 selected, potentially functional single nucleotide polymorphisms (SNPs) located in the microRNA binding sites of the 3' untranslational region (UTR; 2 in CASP3, 1 in CASP6, and 4 in CASP7) and evaluated their associations first with risk of SCCHN in 1066 patients with SCCHN and 1074 cancer-free control subjects and then with SPM in 846 patients in the same non-Hispanic white study population. 23271051

2013

Entrez Id: 836
Gene Symbol: CASP3
CASP3
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE We found that compared with the CASP3 TT genotype of rs1049253, the variant TC/CC genotypes were associated with significantly increased risk of SCCHN (adjusted odds ratio=1.29 and 95% confidence interval=1.07-1.56) and SPM (adjusted hazard ratio=1.79 and 95% CI=1.02-3.16) and worse SPM-free survival (log-rank P = 0.020), but no associations were found for the other 6 SNPs. 23271051

2013

Entrez Id: 4194
Gene Symbol: MDM4
MDM4
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE Because of their important roles in mediating the stabilization and expression of p53, we hypothesized that high-risk genotypes of polymorphisms in p53-related genes, including p53, p73, p14(ARF), MDM2 and MDM4, may be associated with an increased risk of second primary malignancy (SPM) after index squamous cell carcinoma of the head and neck (SCCHN). 23508638

2013

Entrez Id: 4193
Gene Symbol: MDM2
MDM2
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE Because of their important roles in mediating the stabilization and expression of p53, we hypothesized that high-risk genotypes of polymorphisms in p53-related genes, including p53, p73, p14(ARF), MDM2 and MDM4, may be associated with an increased risk of second primary malignancy (SPM) after index squamous cell carcinoma of the head and neck (SCCHN). 23508638

2013

Entrez Id: 9595
Gene Symbol: CYTIP
CYTIP
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE We tested the hypothesis that functional variants of CASP genes are associated with risk of squamous cell carcinoma of the head and neck (SCCHN) and second primary malignancy (SPM). 23271051

2013