FGF5, fibroblast growth factor 5, 2250

N. diseases: 56; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854699
Disease: Trichomegaly
Trichomegaly 		0.400 GeneticVariation phenotype UNIPROT Subsequent sequencing of this gene in several additional trichomegaly families identified an additional mutation in FGF5. 24989505 2014
CUI: C0854699
Disease: Trichomegaly
Trichomegaly 		0.400 CausalMutation phenotype CLINVAR
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C4706941
Disease: Familial isolated trichomegaly
Familial isolated trichomegaly 		0.300 GermlineCausalMutation disease ORPHANET FGF5 is a crucial regulator of hair length in humans. 24989505 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group BEFREE Our findings suggest high BMI increases the effect of the blood pressure-increasing allele at rs1458038 near FGF5, further highlighting the importance of obesity prevention in reducing hypertension risk. 25618516 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group BEFREE The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertension among Chinese children, but failed to replicate the association of CSK rs1378942, MTHFR rs1801133, CYP17A1 rs1004467, STK39 rs3754777 and FGF5 rs16998073 with BP/risk of hypertension. 23759979 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 Biomarker group BEFREE In particular, FGF5 is associated with high blood pressure. 24521867 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group BEFREE The present meta-analysis indicated significant associations of both CYP17A1 rs11191548 and FGF5 rs16998073 polymorphisms with hypertension susceptibility in East Asians. 22959498 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group BEFREE The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-rs11191548, CYP17A1-rs1004467 and MTHFR-rs17367504, was significantly associated with increased SBP (1.16 mmHg/allele, P = 9.01E-5), DBP (0.51 mmHg/allele, P = 4.40E-4) and hypertension risk (OR = 1.22/allele, P = 2.74E-7). 20852445 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group BEFREE Our results implicate variation in FGF5 and ZNF652 gene upstream regions with altered susceptibility to hypertension in Han Chinese. 20542020 2010
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.110 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.110 Biomarker disease BEFREE The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options. 28272467 2017
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.110 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0018498
Disease: Hair Color
Hair Color 		0.100 GeneticVariation phenotype GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0029489
Disease: Other alopecia
Other alopecia 		0.100 GeneticVariation phenotype GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017