CEP120, centrosomal protein 120, 153241

N. diseases: 153; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. 29847808 2018
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
CUI: C4540355
Disease: JOUBERT SYNDROME 31
JOUBERT SYNDROME 31 		0.600 GeneticVariation disease UNIPROT Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 25361962 2015
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease CLINVAR
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 CausalMutation disease CLINVAR
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4540355
Disease: JOUBERT SYNDROME 31
JOUBERT SYNDROME 31 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4540355
Disease: JOUBERT SYNDROME 31
JOUBERT SYNDROME 31 		0.600 CausalMutation disease CLINVAR
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.520 Biomarker disease GENOMICS_ENGLAND Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. 29847808 2018
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.520 Biomarker disease BEFREE Our results indicate that Cep120 helps to maintain centrosome homeostasis by inhibiting untimely maturation of the daughter centriole, and defines a potentially new molecular defect underlying the pathogenesis of ciliopathies such as Jeune Asphyxiating Thoracic Dystrophy and Joubert syndrome. 29741480 2018
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.520 GermlineCausalMutation disease ORPHANET A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 25361962 2015
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.520 GeneticVariation disease BEFREE A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 25361962 2015
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 Biomarker disease GENOMICS_ENGLAND Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 GermlineCausalMutation disease ORPHANET Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.330 GeneticVariation disease BEFREE Recent studies showed that CEP120 gene mutations cause complex ciliopathy phenotypes in humans, including Joubert syndrome and Jeune asphyxiating thoracic dystrophy, suggesting that CEP120 plays an additional role in ciliogenesis. 30988386 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.330 GeneticVariation disease BEFREE Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. 29398280 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.330 GermlineCausalMutation disease ORPHANET The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. 27208211 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.330 Biomarker disease BEFREE The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. 27208211 2016
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND