MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
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 		0.800 Biomarker disease CTD_human
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 CausalMutation disease CLINVAR
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.800 Biomarker disease GENOMICS_ENGLAND
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
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 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 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 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 Biomarker disease GENOMICS_ENGLAND 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 GENOMICS_ENGLAND 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 GENOMICS_ENGLAND 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 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 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 Biomarker disease GENOMICS_ENGLAND 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 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 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 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 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 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 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 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 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 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 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 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