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: rs1554102026
rs1554102026
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: 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: rs367600930
rs367600930
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4225378
Disease:
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 25361962 2015
dbSNP: rs1554102026
rs1554102026
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1554104276
rs1554104276
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		G 0.800 CausalMutation CLINVAR
dbSNP: rs367600930
rs367600930
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4225378
Disease:
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs775080726
rs775080726
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		A 0.800 CausalMutation CLINVAR
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: 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: 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: 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
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: 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: rs10051787
rs10051787
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0455829
Disease:
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
dbSNP: rs114280473
rs114280473
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554103267
rs1554103267
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C4540355
Disease:
JOUBERT SYNDROME 31 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0020224
Disease:
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0003466
Disease:
Anus, Imperforate 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C1827524
Disease:
Wide spaced nipples 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0266589
Disease:
Congenital ear anomaly NOS (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C1857479
Disease:
Short columella 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0018817
Disease:
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs759125480
rs759125480
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C1846460
Disease:
Abnormality of the outer ear 		A 0.700 GeneticVariation CLINVAR