METTL9, methyltransferase like 9, 51108

N. diseases: 24; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal dominant retinitis pigmentosa
0.030 Biomarker disease BEFREE Mutations in the pre-mRNA splicing factor, RP9 (also known as PAP1), predispose autosomal dominant retinitis pigmentosa (adRP) with an early onset and severe vision loss. 28216641 2017
Autosomal dominant retinitis pigmentosa
0.030 Biomarker disease BEFREE PAP-1 has been identified by us as a Pim-1-binding protein and has recently been implicated as the defective gene in RP9, one type of autosomal dominant retinitis pigmentosa (adRP). 15541726 2005
Autosomal dominant retinitis pigmentosa
0.030 Biomarker disease BEFREE PAP-1 has recently been implicated as the defective gene in RP9, one type of autosomal dominant retinitis pigmentosa (adRP). 15474994 2004
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.100 GeneticVariation disease GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018