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 CausalMutation phenotype CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.100 Biomarker phenotype HPO
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 Biomarker group BEFREE Biopsy samples from five acquired immune deficiency syndrome (AIDS)-Kaposi's sarcomas and one non-AIDS-associated Kaposi's sarcoma were assayed by in situ RNA hybridization onto paraformaldehyde-fixed, paraffin-embedded skin sections for the presence of two fibroblast growth factor gene transcripts, FGFB and FGF5. 1987771 1991
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.010 AlteredExpression disease BEFREE Furthermore, they demonstrate a contrasting expression pattern of FGF5 and FGFB genes, both involved in the growth factor pathogenic cascade leading to Kaposi's sarcoma. 1987771 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE FGF-5 was found to be expressed in the neonatal brain and in 3 of the 13 human tumor cell lines examined. 3211147 1988
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.010 AlteredExpression disease BEFREE In contrast, in CP tissue samples, there was abundant expression of FGF-5 in ductal, acinar, and islet cells, as well as in periductal fibroblasts. 9771418 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 Biomarker disease BEFREE These results indicate that the delivery of either FGF-5 or FGF-18 with adeno-associated virus protects photoreceptors from apoptosis in transgenic rat models of retinitis pigmentosa and that the rescue is probably mediated by conventional receptor tyrosine kinase pathways in photoreceptors. 11319911 2001
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.010 Biomarker group BEFREE The goal of these experiments was to evaluate the potential of the fibroblast growth factor family members FGF-5 and FGF-18 to rescue photoreceptors from cell death in retinal degenerative disease. 11319911 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE As a normal protein with significant overexpression by multiple adenocarcinomas and little normal tissue expression, FGF-5 represents an immunotherapy target with potential utility against a broad array of nonmelanoma cancers. 11454700 2001
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE Quantitative real-time reverse transcription PCR revealed that FGF-5 was overexpressed in the majority of renal cell carcinomas, as well as in some prostate carcinoma and breast carcinoma lines. 11454700 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Two secreted factors whose roles in the constitutive activation of NFkappaB are not well defined were investigated further as pure proteins: transforming growth factor beta2 (TGFbeta2) and fibroblast growth factor 5 (FGF5) were both highly expressed in some mutant clones and tumor cell lines, each activated NFkappaB alone, and the combination was synergistic. 14676835 2004
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE In summary, we demonstrate for the first time that FGF5 contributes to the malignant progression of human astrocytic brain tumours by both autocrine and paracrine effects. 18362893 2008
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE Moreover, rFGF5 and supernatants of highly FGF5-positive GBM cell lines specifically stimulated proliferation, migration and tube formation of human umbilical vein endothelial cells. 18362893 2008
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Moreover, rFGF5 and supernatants of highly FGF5-positive GBM cell lines specifically stimulated proliferation, migration and tube formation of human umbilical vein endothelial cells. 18362893 2008
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: 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE The bone metastasis-related genes encode secretory and cell surface proteins implicated in bone-homing (CXCR4), angiogenesis (CTGF and FGF5), invasion (MMP-1 and ADAMTS1), and osteoclast recruitment (IL11). 22120474 2012
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 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: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 Biomarker disease BEFREE Expression of genes known to represent a signature of active Hh signaling in the prostate (especially Fgf5 and Igfbp6) were increased in CAFs compared to NPFs. 24105601 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 Biomarker group BEFREE In particular, FGF5 is associated with high blood pressure. 24521867 2014
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.020 Biomarker disease BEFREE FGF5 and a high-fat diet play significant roles in the pathophysiology of hepatic fibrosis and Fgf5 null mice may provide a suitable model for liver fibrosis or NASH. 24521867 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 Biomarker disease BEFREE FGF5 and a high-fat diet play significant roles in the pathophysiology of hepatic fibrosis and Fgf5 null mice may provide a suitable model for liver fibrosis or NASH. 24521867 2014
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