Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker CTD_human Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (<i>FMR1</i>) and subsequent loss of fragile X mental retardation protein (FMRP) expression. 28616095

2017

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CTD_human FLT3 inhibitors are being developed as targeted therapy for FLT3-ITD(+) acute myeloid leukemia; however, their use is complicated by rapid development of resistance, which illustrates the need for additional therapeutic targets. 27099147

2017

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CTD_human Dynamics of clonal evolution in myelodysplastic syndromes. 27992414

2017

Entrez Id: 2322
Gene Symbol: FLT3
FLT3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker CTD_human Up to 30% of patients with acute myeloid leukemia have constitutively activating internal tandem duplications (ITDs) of the FLT3 receptor tyrosine kinase. 27099147

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker CTD_human Progerin, a C-terminal truncated lamin A mutant, causes premature aging termed Hutchinson-Gilford Progeria Syndrome (HGPS). 28229933

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria
1.000 Biomarker CTD_human We investigated the activation of nuclear factor-E2-related factor 2 (Nrf2) which regulates various antioxidant genes including heme oxygenase-1 (HMOX1), following exposure to sodium arsenite or cadmium chloride in lamin knockdown human cell lines and primary HGPS human fibroblasts. 28229933

2017

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker CTD_human Mutations in the gene encoding the methyl-CG binding protein MeCP2 cause several neurological disorders including Rett syndrome. 28498846

2017

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker CTD_human Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome. 28592917

2017

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker CTD_human Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca(2+) in knock-out mouse models of polycystic kidney disease. 28887310

2017

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 Biomarker CTD_human Increased levels of 7-DHC are associated with Smith-Lemli-Opitz syndrome (SLOS), a human condition that results from a mutation in the gene that encodes DHCR7. 27097157

2017

Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1
1.000 Biomarker CTD_human Role of brain cytochrome P450 mono-oxygenases in bilirubin oxidation-specific induction and activity. 25370011

2016

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker CTD_human Assessment of resveratrol, apocynin and taurine on mechanical-metabolic uncoupling and oxidative stress in a mouse model of duchenne muscular dystrophy: A comparison with the gold standard, α-methyl prednisolone. 26930420

2016

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CTD_human Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism. 26199316

2016

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker CTD_human Hepatocyte growth factor renders BRAF mutant human melanoma cell lines resistant to PLX4032 by downregulating the pro-apoptotic BH3-only proteins PUMA and BIM. 27689874

2016

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker CTD_human We found that HGF mediates resistance of cMET-expressing BRAF mutant melanoma cells to PLX4032-induced apoptosis through downregulation of PUMA and BIM rather than by increasing the expression of pro-survival BCL-2-like proteins. 27689874

2016

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker CTD_human Our analysis established NF1, encoding a negative regulator of RAS, as the third most frequently mutated gene in melanoma, after BRAF and NRAS. 26214590

2016

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker CTD_human Paradoxical activation of MEK/ERK signaling induced by B-Raf inhibition enhances DR5 expression and DR5 activation-induced apoptosis in Ras-mutant cancer cells. 27222248

2016

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker CTD_human Genomic landscape of cutaneous T cell lymphoma. 26192916

2016

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 Biomarker CTD_human Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2. 26214590

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker CTD_human Methylisoindigo preferentially kills cancer stem cells by interfering cell metabolism via inhibition of LKB1 and activation of AMPK in PDACs. 26887594

2016

Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome
1.000 Biomarker CTD_human Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 26319495

2016

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
1.000 Biomarker CTD_human Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. 25877301

2016

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 Biomarker CTD_human Therefore, we hypothesized that Hedgehog signaling may be altered in human GIST and controls KIT expression. 27793025

2016

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 Biomarker CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025

2016

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 Biomarker CTD_human Treatment with GLI1/2 inhibitors, including arsenic trioxide, significantly increased GLI3 binding to the KIT promoter, decreased KIT expression, and reduced viability in imatinib-sensitive and imatinib-resistant GIST cells. 27793025

2016