TCTN2, tectonic family member 2, 79867

N. diseases: 109; N. variants: 15
Disease: Meckel syndrome type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 GeneticVariation disease BEFREE Tectonic 2 (TCTN2) is one of the TZ proteins in the vicinity of the ciliary membrane, and its mutation is associated with Meckel syndrome. 29866362 2018
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND Tectonic gene mutations in patients with Joubert syndrome. 25118024 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND Tectonic gene mutations in patients with Joubert syndrome. 25118024 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 21565611 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 GeneticVariation disease BEFREE In this article, we describe the identification of a novel MKS locus MKS8 that we map to TCTN2, in a multiplex consanguineous family. 21462283 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 21565611 2011