KNL1, kinetochore scaffold 1, 57082

N. diseases: 58; N. variants: 10
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Refining the phenotype associated with CASC5 mutation. 26626498 2016
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Refining the phenotype associated with CASC5 mutation. 26626498 2016
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 22983954 2012
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 22983954 2012
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human