FGF9, fibroblast growth factor 9, 2254

N. diseases: 153; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 GeneticVariation disease BEFREE Only one FGF9 mutation has been previously reported in a multigeneration family with multiple synostoses (SYNS3) but no signs of craniosynostosis. 28730625 2017
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease MGD Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients. 28169396 2017
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 GeneticVariation disease BEFREE Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients. 28169396 2017
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 GeneticVariation disease UNIPROT Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease GENOMICS_ENGLAND Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease GENOMICS_ENGLAND Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease CTD_human
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 CausalMutation disease CLINVAR
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.500 Biomarker disease MGD A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. 28169396 2017
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.500 GermlineCausalMutation disease ORPHANET Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2007
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease HPO
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.350 Biomarker disease BEFREE Reintroduction of FGF9 and CCND2 attenuated miR-4317-mediated suppression of migration and invasion in NSCLC. 30227870 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.350 AlteredExpression disease BEFREE Nine out of 90 NSCLC specimens (10%) had "high" FGF9 expression compared with corresponding non-cancerous lung tissues. 24239165 2014
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.350 Biomarker disease BEFREE FGF9 has been implicated in the pathogenesis of NSCLC by synergizing with EGFR pathways or by providing an escape pathway mediating resistance to EGFR inhibition. 23867472 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.350 AlteredExpression disease BEFREE We further compared AhR and FGF-9 expression in 146 non-small cell lung cancer (NSCLC) cases by immunohistochemistry. 19358281 2009
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.350 Biomarker disease CTD_human We further compared AhR and FGF-9 expression in 146 non-small cell lung cancer (NSCLC) cases by immunohistochemistry. 19358281 2009
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.350 Biomarker disease BEFREE Thus, FGF2, FGF9 and their respective high-affinity FGFRs comprise a growth factor autocrine loop that is active in a subset of gefitinib-insensitive NSCLC cell lines. 18849352 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.330 AlteredExpression group BEFREE The expression of Fgf9 in adult lungs resulted in the rapid development of multiple adenocarcinoma-like tumour nodules. 31090071 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.330 Biomarker group BEFREE We used flow cytometry, immunostaining, RT-PCR and in vitro culture system on various cell populations isolated from the FGF9-induced adenocarcinoma mouse lungs. 29656749 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.330 Biomarker group CTD_human The results of immunohistochemistry analysis of human lung adenocarcinoma specimens showed that FGF-9 protein was detected in the adenocarcinoma cells but not in normal epithelium. 20464547 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.330 AlteredExpression group BEFREE FGF-9 expression was more common in adenocarcinomas than in squamous cell carcinomas. 19358281 2009
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.320 GeneticVariation disease BEFREE A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. 28169396 2017
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.320 GermlineCausalMutation disease ORPHANET Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.320 GeneticVariation disease BEFREE Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009