Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1 		0.010 GeneticVariation disease BEFREE 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
Entrez Id: 3719
Gene Symbol: JBS
JBS 		0.010 Biomarker disease BEFREE Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding. 25920555 2016
Entrez Id: 4025
Gene Symbol: LPO
LPO 		0.100 GeneticVariation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 60412
Gene Symbol: EXOC4
EXOC4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57787
Gene Symbol: MARK4
MARK4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15 		0.110 GeneticVariation disease BEFREE A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. 30851085 2019
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 55165
Gene Symbol: CEP55
CEP55 		0.300 GermlineCausalMutation disease ORPHANET A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209 2017
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107 		0.300 GermlineCausalMutation disease ORPHANET Identification of a novel MKS locus defined by TMEM107 mutation. 26123494 2015
Entrez Id: 80776
Gene Symbol: B9D2
B9D2 		0.300 GermlineCausalMutation disease ORPHANET Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		0.300 GermlineCausalMutation disease ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233 2011
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		0.300 GermlineCausalMutation disease ORPHANET Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146 2010
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		0.300 GeneticVariation disease ORPHANET Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 20671153 2010
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.300 GeneticVariation disease ORPHANET
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 GermlineCausalMutation disease ORPHANET
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		0.410 GeneticVariation disease BEFREE Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding. 25920555 2016
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2 		0.410 GermlineCausalMutation disease ORPHANET A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 21462283 2011
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		0.410 GermlineCausalMutation disease ORPHANET B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627 2011
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		0.410 CausalMutation disease CLINVAR B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627 2011