CEP41, centrosomal protein 41, 95681

N. diseases: 69; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.520 GeneticVariation disease BEFREE Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome. 30664616 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.520 GermlineCausalMutation disease ORPHANET Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.520 GeneticVariation disease BEFREE Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.520 Biomarker disease GENOMICS_ENGLAND Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.320 GeneticVariation disease BEFREE Using a zebrafish model, we evaluated the mechanism by which the CEP41 variants might contribute to ASD. 30664616 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.320 Biomarker disease CTD_human Mutations in the TSGA14 gene in families with autism spectrum disorders. 21438139 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.320 GeneticVariation disease BEFREE Mutations in the TSGA14 gene in families with autism spectrum disorders. 21438139 2011
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		0.300 Biomarker disease GENOMICS_ENGLAND CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		0.300 Biomarker disease GENOMICS_ENGLAND CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		0.300 GermlineCausalMutation disease ORPHANET CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT A molecular pathway analysis informs the genetic risk for arrhythmias during antipsychotic treatment. 29064910 2018
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO