CEP120, centrosomal protein 120, 153241

N. diseases: 153; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554104276
rs1554104276
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		0.800 GeneticVariation UNIPROT Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
dbSNP: rs775080726
rs775080726
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		0.800 GeneticVariation UNIPROT Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
dbSNP: rs17473412
rs17473412
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0005938
Disease:
Bone Density 		T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs367600930
rs367600930
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0431399
Disease:
Familial aplasia of the vermis 		0.010 GeneticVariation BEFREE The point mutations V194A and A199P, which cause Joubert syndrome (JS) and Jeune asphyxiating thoracic dystrophy (JATD), respectively, both reduce the thermostability of the second C2 domain by targeting residues that point toward its hydrophobic core. 29847808 2018
dbSNP: rs6595443
rs6595443
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0026764
Disease:
Multiple Myeloma 		T 0.700 GeneticVariation GWASCAT Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma. 30213928 2018
dbSNP: rs6862676
rs6862676
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0424678
Disease:
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs1864046
rs1864046
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6595440
rs6595440
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7706662
rs7706662
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1554098663
rs1554098663
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4277690
Disease:
Ciliopathies 		0.010 GeneticVariation BEFREE Together, our findings reveal a novel role of CEP120 in ciliogenesis by showing that it interacts with C2CD3 and Talpid3 to assemble centriole appendages and by illuminating the molecular mechanism through which the CEP120 (I975S) mutation causes complex ciliopathies. 30988386 2019
dbSNP: rs9327294
rs9327294
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019