Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE BEST1 (alias VMD2), the bestrophin gene causally associated with BMD, was evaluated in the dog. 17460247 2007
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE BEST1 mutations were not correlated with the severity of the functional and clinical data in the Best VMD patients examined. 20057903 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE BEST1 mutations described previously in Danish patients with Best disease are reviewed. 22633354 2012
Entrez Id: 51384
Gene Symbol: WNT16
WNT16 		0.010 Biomarker 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: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE BEST1 variants were identified in 25 BMD patients, five with novel variants of unknown significance (VUS). 25082885 2014
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.010 Biomarker disease BEFREE TBS (Vex excluded) values decreased steadily with age with an overall loss of 8.99% between 52.5 and 77.5 years. 27900426 2017
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: 7439
Gene Symbol: BEST1
BEST1 		1.000 Biomarker disease BEFREE BMD (DXA) was measured at spine (LS), total hip (TH) and femoral neck (FN). 30355512 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 Biomarker disease BEFREE BMD (DXA) was measured at spine (LS), total hip (TH) and femoral neck (FN). 30355512 2019
Entrez Id: 26155
Gene Symbol: NOC2L
NOC2L 		0.010 Biomarker disease BEFREE NIR-AF imaging can identify the pre-vitelliform stage of BVMD. 31070670 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 Biomarker disease BEFREE Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. 8543940 1995
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 Biomarker disease BEFREE A 1583 bp transcript was found to be expressed in both DMD and BMD patients which was unrelated to the known dystrophin gene. 12577122 2002
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease UNIPROT A broad phenotypic variability may be observed in BVMD, even with a single BEST1 mutation. 19357557 2009
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		0.060 Biomarker disease BEFREE A complete ophthalmologic examination, including fundus biomicroscopy and HD OCT, was performed in 11 consecutive patients with a diagnosis of vitelliform macular dystrophy. 18619572 2008
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: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 21467170 2011
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease CLINVAR A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 21467170 2011
Entrez Id: 2495
Gene Symbol: FTH1
FTH1 		0.100 GeneticVariation disease CLINVAR A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 21467170 2011
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		0.040 GeneticVariation disease BEFREE A maximum likelihood estimate for the heterozygote penetrance was reached for the locus order D11S903-Best's disease-PYGM at a penetrance value of 0.96. 8064817 1994
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease CLINVAR A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. 18703557 2008
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. 22422030 2012
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease. 12187431 2002
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease UNIPROT A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease. 12187431 2002
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		1.000 GeneticVariation disease BEFREE 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 GermlineCausalMutation disease ORPHANET A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2. 16754206 2006