Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55974
Gene Symbol: SLC50A1
SLC50A1 		0.020 Biomarker disease BEFREE At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. 23894102 2013
Entrez Id: 9985
Gene Symbol: REC8
REC8 		0.020 GeneticVariation disease BEFREE Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome. 23894102 2013
Entrez Id: 9985
Gene Symbol: REC8
REC8 		0.020 Biomarker disease BEFREE The recombinant 8[Rec(8)] syndrome [rec(8), (8qter-->8q22.1::8p23.1-->8qter] is due to a parental inv(8)(8pter-->8p23.1::8q22.1-->8p23.1::8q22+ ++.1-->8qter). 8256815 1993
Entrez Id: 55974
Gene Symbol: SLC50A1
SLC50A1 		0.020 Biomarker disease BEFREE This article reviews SLV Rec(8) syndrome and other chromosome 8 aberrations to suggest locations for cardiogenic genes. 1746613 1991
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		0.010 GeneticVariation disease BEFREE At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. 23894102 2013