FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018564
Disease: Hand deformities
Hand deformities
0.010 GeneticVariation group BEFREE In addition to hypogonadotropic hypogonadism, 44.4% (8/18) patients exhibited other clinical deformities, including dental agenesis (3/18, 16.7%), hearing loss (3/18, 16.7%), and hand malformation (2/18, 11.1%). hCG/hMG therapy was effective in promoting sexual development in IHH patients with FGFR1, FGF8, and FGF17 mutations. 31748124 2020
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities
0.010 GeneticVariation group BEFREE In addition to hypogonadotropic hypogonadism, 44.4% (8/18) patients exhibited other clinical deformities, including dental agenesis (3/18, 16.7%), hearing loss (3/18, 16.7%), and hand malformation (2/18, 11.1%). hCG/hMG therapy was effective in promoting sexual development in IHH patients with FGFR1, FGF8, and FGF17 mutations. 31748124 2020
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 Biomarker disease BEFREE The results of this study suggest that FGF8 and Survivin contribute to radiation resistance in rectal cancer and may serve as markers to select patients who may not benefit from neoadjuvant radiotherapy. 30276721 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 Biomarker disease BEFREE Here, we review the involvement of FGFs in bone-related processes and diseases; FGF1 in the differentiation of human bone marrow mesenchymal stem cells and fracture repair; FGF2, FGF9, and FGF18 in osteoarthritis; FGF6 in bone and muscle injury; FGF8 in osteoarthritis and Kashin-Beck disease; and FGF21 and FGF23 on bone regulation. 31260189 2019
CUI: C0302142
Disease: Deformity
Deformity
0.010 AlteredExpression group BEFREE Patients with hypospadias consistently showed aberrant immunohistochemical staining patterns for FGF8/FGF10/FGFR2 in epidermis and dermis compared to patients without penile malformation (p < 0.01 for all markers). qPCR displayed no difference in expression levels on mRNA level (FGFR2 p = 0.44, FGF8 p = 0.77, and FGF10 p = 0.17) comparing normal foreskin with foreskin from patients with hypospadias.Figure. 31718875 2019
Amputated structure (morphologic abnormality)
0.010 Biomarker phenotype BEFREE Supplementation of nerve factors BMP7, FGF2, and FGF8 in the stump ends after amputation on denervated limbs not only enabled HDAC1 up-regulation but also led to more extent of limb regeneration. 30826398 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 Biomarker group BEFREE We also discuss the role of Cubilin as a modulator of Fgf8 signaling during embryonic development and propose that the Cubilin-Fgf8 interaction may be relevant in human pathology, including in cancer progression, heart or neural tube defects. 30295181 2018
CUI: C0028879
Disease: Odontogenic Cysts
Odontogenic Cysts
0.010 AlteredExpression disease BEFREE Dental organs of various odontogenic stages and 30 OTs including solid multicystic ameloblastomas (SMA, 10 cases), ameloblastic fibroma (AF, 10 cases), odontogenic myxoma (OM, 10 cases), and odontogenic cysts: odontogenic keratocyst (OKC, 10 cases) were evaluated in both epithelial and mesenchymal components for the expression of BMP4 and FGF8 using immunohistochemistry. 30079292 2018
CUI: C0028880
Disease: Odontogenic Tumors
Odontogenic Tumors
0.010 Biomarker group BEFREE The mesenchymal nuclear expression of both BMP4 (8 cases) (<i>p</i> = 0.001) and FGF8 (9 cases) (<i>p</i> = 0.045) were significantly high in OMs among all OTs. 30079292 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE We also discuss the role of Cubilin as a modulator of Fgf8 signaling during embryonic development and propose that the Cubilin-Fgf8 interaction may be relevant in human pathology, including in cancer progression, heart or neural tube defects. 30295181 2018
CUI: C0334569
Disease: Odontogenic myxoma
Odontogenic myxoma
0.010 GeneticVariation disease BEFREE Dental organs of various odontogenic stages and 30 OTs including solid multicystic ameloblastomas (SMA, 10 cases), ameloblastic fibroma (AF, 10 cases), odontogenic myxoma (OM, 10 cases), and odontogenic cysts: odontogenic keratocyst (OKC, 10 cases) were evaluated in both epithelial and mesenchymal components for the expression of BMP4 and FGF8 using immunohistochemistry. 30079292 2018
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst
0.010 AlteredExpression disease BEFREE Dental organs of various odontogenic stages and 30 OTs including solid multicystic ameloblastomas (SMA, 10 cases), ameloblastic fibroma (AF, 10 cases), odontogenic myxoma (OM, 10 cases), and odontogenic cysts: odontogenic keratocyst (OKC, 10 cases) were evaluated in both epithelial and mesenchymal components for the expression of BMP4 and FGF8 using immunohistochemistry. 30079292 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 Biomarker disease BEFREE One subfamily of the fibroblast growth factor (FGF) superfamily, namely the FGF8 subfamily (including FGF17 and FGF18), has become important as Fgf8 has been described as an oocyte-derived factor essential for glycolysis in mouse cumulus cells and aberrant expression of <i>FGF18</i> has been described in ovarian and endometrial cancers. 29269444 2018
CUI: C1708604
Disease: Keratocystic Odontogenic Tumor
Keratocystic Odontogenic Tumor
0.010 AlteredExpression disease BEFREE Dental organs of various odontogenic stages and 30 OTs including solid multicystic ameloblastomas (SMA, 10 cases), ameloblastic fibroma (AF, 10 cases), odontogenic myxoma (OM, 10 cases), and odontogenic cysts: odontogenic keratocyst (OKC, 10 cases) were evaluated in both epithelial and mesenchymal components for the expression of BMP4 and FGF8 using immunohistochemistry. 30079292 2018
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
0.010 Biomarker disease BEFREE FGF8 and FGFR3 may therefore play an important role in the onset of deep zone necrosis and pathogenesis in KBD in adolescent children. 29626475 2018
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.010 GeneticVariation disease BEFREE The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. 29168327 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 GeneticVariation group BEFREE In conclusion, variant/s in FGF2 and FGF8 may predispose diabetics with CKD to LEA. 27237708 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Molecular validation demonstrated that FGF8 fully induced nuclear localization of YAP1 and enhanced transcriptional outcomes such as the expression of CTGF and CYR61, while decreasing YAP1 expression impeded FGF-8-induced cell growth, EMT, migration and invasion, revealing that YAP1 is required for FGF8-mediated CRC growth and metastasis. 25473897 2015
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 Biomarker disease BEFREE WT1 controls metanephric mesenchyme (MM) self-renewal and proliferation mainly by regulating FGF and BMP-pSMAD signaling pathways as well as Sall1 and Pax2, encoding key transcription factors; WT1 drives MM differentiation and mesenchyme-epithelial transition by targeting Fgf8 and Wnt4; WT1 defines podocyte identity by activation of other podocyte-specific transcription factors, including Mafb, Lmx1b, FoxC2, and Tcf21. 26154924 2015
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE FGF8 promotes colorectal cancer growth and metastasis by activating YAP1. 25473897 2015
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.010 Biomarker disease BEFREE Micropenis in patients with FGF8 abnormalities appears to be caused by gonadotropin deficiency and defective outgrowth of the anlage of the penis. 24280688 2014
Myxoinflammatory fibroblastic sarcoma
0.010 GeneticVariation disease BEFREE Distinct and reproducible genetic abnormalities identified in MIFS are translocation t(1;10)(p22:q24), with rearrangements of the TGFBR3 and MGEA5 genes associated with increased levels of FGF8, and formation of marker/ring chromosome 3, with amplification of the VGLL3 locus. 25268202 2014
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION
0.010 GeneticVariation disease BEFREE Our results suggest FGF8 mutations to contribute to the formation of the VATER/VACTERL association. 25131394 2014
CUI: C4551492
Disease: Micropenis
Micropenis
0.010 Biomarker disease BEFREE Micropenis in patients with FGF8 abnormalities appears to be caused by gonadotropin deficiency and defective outgrowth of the anlage of the penis. 24280688 2014
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
0.010 Biomarker disease BEFREE Micropenis in patients with FGF8 abnormalities appears to be caused by gonadotropin deficiency and defective outgrowth of the anlage of the penis. 24280688 2014