MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
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 		0.800 GeneticVariation disease BEFREE Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11. 15112103 2004
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration. 23349226 2013
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE Here we show that loss of function of mouse Mks1 results in an accurate model of human MKS, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development and the kidney that mirror the human syndrome. 19776033 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Here we report a cohort of 26 patients referred for genetic analysis of Joubert (JBTS) and Meckel-Gruber (MKS) syndromes, two clinically and genetically heterogeneous neurodevelopmental conditions that define a phenotypic spectrum, with MKS at the severe end. 26729329 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 AlteredExpression disease BEFREE Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. 16415886 2006
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE In the case of prenatal ultrasound findings that are highly suggestive of MKS and a negative NGS MKS gene panel, WES should also be performed to not miss rare gene associations. 30851085 2019
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci. 21462283 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. 19515853 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE The secondary aim was to screen for novel mutations in the coding sequence of the MKS1 gene of MKS fetuses and to obtain genotype-phenotype correlations where possible. 17935508 2007
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia. 21110233 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE This novel model system offers insights into the role of MKS1 in Wnt signalling and proliferation, and the impact of deregulation of these processes on brain and kidney development in MKS, as well as expanding our understanding of the role of Mks1 in multiple signalling pathways. 23454480 2013
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies. 26982032 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. 28291807 2017
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. 27377014 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Our first results indicate that the MKS1 and MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations. 17397051 2007
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L). 21493627 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease BEFREE A minority of the individuals with MKS1-related JS have MKS features. 26490104 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest further genetic heterogeneity for MKS. 17437276 2007
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 GeneticVariation disease BEFREE Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. 21763481 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.740 GeneticVariation disease BEFREE Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255 2008
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.740 Biomarker disease BEFREE In collaboration with the French National Center for Sequencing (CNS, Evry), all coding exons and flanking introns were sequenced for 27 ciliopathy genes (BBS1-12, MGC1203, TTC21b, AHI1, NPHP2-8 (NPHP6=BBS14), MKS1(BBS13), MKS3, C2ORF86, SDCCAG8, ALMS1) in 96 patients referred with a clinical diagnosis of BBS. 22004009 2012
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.740 Biomarker disease BEFREE To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS. 19797195 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.740 GeneticVariation disease BEFREE To address this heterogenity, we sequenced the causative genes in MKS and BBS but no mutations in these five genes were identified. 15266619 2004