Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GermlineCausalMutation disease ORPHANET A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2. 16754206 2006
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 CausalMutation disease CLINVAR
Entrez Id: 2495
Gene Symbol: FTH1
FTH1
0.100 CausalMutation disease CLINVAR
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 AlteredExpression disease BEFREE Wnt16 knockout (KO) mice with reduced total body BMD and gene expression profiles in human bone biopsies support a role of C7orf58 and WNT16 on the BMD phenotypes observed at the human population level. 22792070 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.100 AlteredExpression disease BEFREE A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients: immunological evidence. 1564523 1992
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.100 AlteredExpression disease BEFREE Wnt16 knockout (KO) mice with reduced total body BMD and gene expression profiles in human bone biopsies support a role of C7orf58 and WNT16 on the BMD phenotypes observed at the human population level. 22792070 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.100 AlteredExpression disease BEFREE Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced. 2261642 1990
Entrez Id: 5617
Gene Symbol: PRL
PRL
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3
0.010 AlteredExpression disease BEFREE Of 1801 proteins identified, 45 were differentially abundant in low versus high BMD, with heat shock protein 27 (HSP27) distinctly upregulated in low BMD condition in both premenopausal and postmenopausal categories. 26063949 2015
Entrez Id: 27295
Gene Symbol: PDLIM3
PDLIM3
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO
0.010 AlteredExpression disease BEFREE On a molecular level, RHODOPSIN degradation after POS feeding was delayed in BD hiPSC-RPE relative to unaffected sibling hiPSC-RPE, directly implicating impaired POS handling in the pathophysiology of the disease. 23139242 2013
Entrez Id: 250
Gene Symbol: ALPP
ALPP
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 1385
Gene Symbol: CREB1
CREB1
0.010 AlteredExpression disease BEFREE To address this issue, we examined skeletal muscles of DMD and BMD patients for co-expression of NO synthase (NOS) with nitrotyrosine and transcription factor CREB, as well as with enzymes engaged in NO signaling. 16718354 2006
Entrez Id: 407031
Gene Symbol: MIR30C1
MIR30C1
0.010 AlteredExpression disease BEFREE Our results show that the serum levels of miR-30c and miR-181a increased 7- and 6-fold respectively in DMD patients (n = 21, 2-14 years, ambulant), and 7-fold in BMD patients (n = 5, 9-15 years) compared to controls (n = 22, 2-14 years). 27979502 2017
Entrez Id: 80150
Gene Symbol: ASRGL1
ASRGL1
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.010 AlteredExpression disease BEFREE Among patients with lymph node metastasis, those with high tumour-infiltrating lymphocyte levels and low ADAR1 expression demonstrated the best disease-free survival. 29022489 2017
Entrez Id: 26033
Gene Symbol: ATRNL1
ATRNL1
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 654
Gene Symbol: BMP6
BMP6
0.010 AlteredExpression disease BEFREE BMP6 serum levels and elbow flexion) or dystrophin levels (e.g.TIMP2) in BMD patients. 29682908 2018
Entrez Id: 55226
Gene Symbol: NAT10
NAT10
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 57291
Gene Symbol: DANCR
DANCR
0.010 AlteredExpression disease BEFREE In this study, we found significant upregulation of DANCR in the blood mononuclear cells (MNCs) from low-BMD patients with the qRT-PCR analyses. 25660720 2015
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
0.010 AlteredExpression disease BEFREE The presence and the distribution of inducible-NOS (NOS II or iNOS), and NADPH-diaphorase (NADPH-d), a marker for NOS catalytic activity, were determined in muscle sections from control, DMD, and BMD patients. 11474581 2001
Entrez Id: 407032
Gene Symbol: MIR30C2
MIR30C2
0.010 AlteredExpression disease BEFREE Our results show that the serum levels of miR-30c and miR-181a increased 7- and 6-fold respectively in DMD patients (n = 21, 2-14 years, ambulant), and 7-fold in BMD patients (n = 5, 9-15 years) compared to controls (n = 22, 2-14 years). 27979502 2017
Entrez Id: 470
Gene Symbol: ATHS
ATHS
0.010 AlteredExpression disease BEFREE In addition, Prolactin could increase serum 1,25(OH)2D3 and ALP levels and decrease tibia BMD significantly without any change in PTH level. 30599794 2019
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
0.010 AlteredExpression disease BEFREE BMP6 serum levels and elbow flexion) or dystrophin levels (e.g.TIMP2) in BMD patients. 29682908 2018
Entrez Id: 3316
Gene Symbol: HSPB2
HSPB2
0.010 AlteredExpression disease BEFREE Of 1801 proteins identified, 45 were differentially abundant in low versus high BMD, with heat shock protein 27 (HSP27) distinctly upregulated in low BMD condition in both premenopausal and postmenopausal categories. 26063949 2015