TCTN1, tectonic family member 1, 79600

N. diseases: 82; N. variants: 4
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 		0.610 Biomarker disease GENOMICS_ENGLAND In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS). 26489806 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 GermlineCausalMutation disease ORPHANET Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease GENOMICS_ENGLAND Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 GeneticVariation disease BEFREE Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 Biomarker disease CTD_human Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307 2011
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 Biomarker disease CTD_human A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 21725307 2011
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 GermlineCausalMutation disease ORPHANET A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 21725307 2011
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 21725307 2011
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker disease CTD_human Blood gene expression signatures predict exposure levels. 17984051 2007
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		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
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO