SASS6, SAS-6 centriolar assembly protein, 163786

N. diseases: 36; N. variants: 2
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 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 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
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 CausalMutation disease CLINVAR
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 GeneticVariation disease BEFREE Our finding supported the role of SASS6 in the pathogenesis of microcephaly, expanding mutation spectrums and contributing to understanding of molecular mechanisms of MCPH. 30639237 2019
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 GeneticVariation disease BEFREE A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 GermlineCausalMutation disease ORPHANET A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE Our finding supported the role of SASS6 in the pathogenesis of microcephaly, expanding mutation spectrums and contributing to understanding of molecular mechanisms of MCPH. 30639237 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Molecular and cellular basis of autosomal recessive primary microcephaly. 25548773 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Structural basis of the 9-fold symmetry of centrioles. 21277013 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Structures of SAS-6 suggest its organization in centrioles. 21273447 2011
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO