Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 CausalMutation disease CLINVAR Lessons learned from additional research analyses of unsolved clinical exome cases. 28327206 2017
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126 2012
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126 2012
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 GermlineCausalMutation disease ORPHANET Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126 2012
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation disease UNIPROT Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126 2012
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease CTD_human
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation disease CLINVAR