KNL1, kinetochore scaffold 1, 57082

N. diseases: 58; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185649211
rs185649211
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4924487
rs4924487
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C0600139
Disease:
Prostate carcinoma 		C 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs7171260
rs7171260
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs763915472
rs763915472
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Refining the phenotype associated with CASC5 mutation. 26626498 2016
dbSNP: rs763915472
rs763915472
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 22983954 2012
dbSNP: rs142872154
rs142872154
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555420891
rs1555420891
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs758157294
rs758157294
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs797045430
rs797045430
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs863225127
rs863225127
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs863225127
rs863225127
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1850352
Disease:
Microcephaly, severe 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs979186313
rs979186313
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C1858516
Disease:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		G 0.700 GeneticVariation CLINVAR