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 GeneticVariation disease UNIPROT 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 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 GeneticVariation disease CLINVAR 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 GeneticVariation disease CLINVAR In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation. 26490104 2016
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 GeneticVariation disease CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 GeneticVariation disease CLINVAR 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 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 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 GeneticVariation disease UNIPROT In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation. 26490104 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 GeneticVariation disease CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 GeneticVariation disease CLINVAR The coding regions of MKS1 and MKS3 were screened for mutations by direct sequencing in 17 families clinically diagnosed with MKS in the US or The Netherlands. 17377820 2007
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 UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 GeneticVariation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 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 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: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.800 Biomarker disease GENOMICS_ENGLAND The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10. 4886560 1969