SASS6, SAS-6 centriolar assembly protein, 163786

N. diseases: 36; N. variants: 2
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014