rs1554098663
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
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
rs367600930
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
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
rs1864046
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Systolic Pressure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs6595440
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Vital capacity
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs6862676
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Lean body mass
0.700
GeneticVariation
GWASCAT
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
30593698
2019
rs7706662
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs9327294
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Body Height
0.700
GeneticVariation
GWASCAT
Characterizing rare and low-frequency height-associated variants in the Japanese population.
31562340
2019
rs17473412
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
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
rs6595443
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Multiple Myeloma
T
0.700
GeneticVariation
GWASCAT
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
30213928
2018
rs10051787
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Waist Circumference
T
0.700
GeneticVariation
GWASCAT
Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference.
26785701
2016
rs114280473
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
JOUBERT SYNDROME 31
0.700
GeneticVariation
UNIPROT
rs1554103267
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
JOUBERT SYNDROME 31
GT
0.700
CausalMutation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Polyhydramnios
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Anus, Imperforate
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Wide spaced nipples
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Congenital ear anomaly NOS (disorder)
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Short columella
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Atrial Septal Defects
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Abnormality of the outer ear
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Anteriorly placed anus
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
ATRIOVENTRICULAR CANAL DEFECT
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Neck webbing
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Ventricular Septal Defects
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
rs759125480
×
Entrez Id:
153241
Gene Symbol:
CEP120
CEP120
Hirsutism
A
0.700
GeneticVariation
CLINVAR