FDPS, farnesyl diphosphate synthase, 2224

N. diseases: 83; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225262
Disease: POROKERATOSIS 9, MULTIPLE TYPES
POROKERATOSIS 9, MULTIPLE TYPES
0.700 GeneticVariation disease UNIPROT Genomic variations of the mevalonate pathway in porokeratosis. 26202976 2015
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 GeneticVariation disease BEFREE From January 2014 to March 2018, a retrospective study of 88 patients with spondylolisthesis and osteoporosis treated with minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) using the conventional pedicle screw (CPS group, n = 52) and the fenestrated pedicle screw (FPS group, n = 36) was performed with a follow-up of 30 months (range, 10-58 months). 31279300 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 GeneticVariation disease BEFREE Association of farnesyl diphosphate synthase polymorphisms and response to alendronate treatment in Chinese postmenopausal women with osteoporosis. 24534219 2014
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 GeneticVariation disease BEFREE Our study showed a strong association between bone mineral density and polymorphisms in the FDPS gene, and a borderline association with LRP5 and SOST polymorphisms in postmenopausal Romanian women with osteoporosis.No association was found for VKORC1. 31774873 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 GeneticVariation group BEFREE Sixteen genes have been associated with cancer, with five specifically associated with prostate cancer (BTG2, IGFBP3, SIRT1, MXI1, and FDPS). 24713434 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 GeneticVariation group BEFREE Sixteen genes have been associated with cancer, with five specifically associated with prostate cancer (BTG2, IGFBP3, SIRT1, MXI1, and FDPS). 24713434 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Replication trials in five independent European samples detected associations of variants within HMGCS2, FDPS, NPC2, or ABCG1 with AD in some samples (P = 0.05 to P = 0.005). 17387528 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Analysis of single nucleotide polymorphisms in the hFPPS gene and mRNA levels in autopsy-confirmed AD subjects was undertaken, and a genetic link between hFPPS and phosphorylated tau (P-Tau) levels in the human brain was identified. 24911527 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.030 GeneticVariation disease BEFREE To determine if a higher sensitivity to bisphosphonates could in part explain the development of ONJ, the segregation of A/C rs2297480 polymorphism of gene encoding for the farnesyl pyrophosphate synthase (FDPS) with ONJ was evaluated in a cohort of 68 Caucasian patients treated with zoledronic acid for multiple myeloma and metastatic mammary and prostate cancer. 21196316 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.030 GeneticVariation disease BEFREE To determine if a higher sensitivity to bisphosphonates could in part explain the development of ONJ, the segregation of A/C rs2297480 polymorphism of gene encoding for the farnesyl pyrophosphate synthase (FDPS) with ONJ was evaluated in a cohort of 68 Caucasian patients treated with zoledronic acid for multiple myeloma and metastatic mammary and prostate cancer. 21196316 2011
CUI: C0015468
Disease: Facial Pain
Facial Pain
0.020 GeneticVariation phenotype BEFREE Facial Pain Scale Revised (FPS-R) and Face, Leg, Activity, Cry, Consolability (FLACC) scores were used to evaluate pain and anxiety before, during and after procedure. 28190665 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 GeneticVariation disease BEFREE To determine if a higher sensitivity to bisphosphonates could in part explain the development of ONJ, the segregation of A/C rs2297480 polymorphism of gene encoding for the farnesyl pyrophosphate synthase (FDPS) with ONJ was evaluated in a cohort of 68 Caucasian patients treated with zoledronic acid for multiple myeloma and metastatic mammary and prostate cancer. 21196316 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 GeneticVariation disease BEFREE Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway. 26202976 2015
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media
0.010 GeneticVariation disease BEFREE In children with AOM (n = 201), pain was assessed by parents as moderate/severe in 65% via interview; 90% with the FPS-R; and 91% with the FLACC Scale (P < 0.001). 30572868 2018
CUI: C4225262
Disease: POROKERATOSIS 9, MULTIPLE TYPES
POROKERATOSIS 9, MULTIPLE TYPES
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis. 27422687 2016
CUI: C4225262
Disease: POROKERATOSIS 9, MULTIPLE TYPES
POROKERATOSIS 9, MULTIPLE TYPES
0.700 Biomarker disease GENOMICS_ENGLAND Genomic variations of the mevalonate pathway in porokeratosis. 26202976 2015
CUI: C4225262
Disease: POROKERATOSIS 9, MULTIPLE TYPES
POROKERATOSIS 9, MULTIPLE TYPES
0.700 Biomarker disease CTD_human
CUI: C0162839
Disease: Porokeratosis
Porokeratosis
0.110 Biomarker disease HPO
CUI: C0162839
Disease: Porokeratosis
Porokeratosis
0.110 Biomarker disease BEFREE Mutation of four genes in this pathway, including mevalonate kinase, phosphomevalonate kinase, mevalonate diphosphate decarboxylase and farnesyl diphosphate synthase, have demonstrated to be responsible for porokeratosis (PK). 28765912 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease HPO
CUI: C0033774
Disease: Pruritus
Pruritus
0.100 Biomarker phenotype HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE FPS-1 cells showed the same morphological and immunophenotypical characteristics as the primary tumor. 17094458 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE To test the combined inhibition of RAGE in both tumor cell-intrinsic and non-tumor cells of the microenvironment, we performed in vivo treatment of xenografted tumors with FPS-ZM1 (1 mg/kg, two times per week). 27669433 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE A slow dissociation inhibition pattern and a noncompetitive allosteric binding mode were found, and cellular mechanism-of-action studies showed that these inhibitors inhibit tumor cell growth primarily by inhibiting <i>Hs</i>FPPS, leading to downregulation of Ras prenylation and cell apoptosis. 31725297 2019