Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GermlineCausalMutation ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GermlineCausalMutation ORPHANET Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 17389183

2007

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.440 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.440 GermlineCausalMutation ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.440 GermlineCausalMutation ORPHANET Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974

2007

Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.430 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.430 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.430 GermlineCausalMutation ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.430 GermlineCausalMutation ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.430 GermlineCausalMutation ORPHANET Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 17389183

2007

Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.420 GermlineCausalMutation ORPHANET Mutations in TMEM231 cause Meckel-Gruber syndrome. 23349226

2013

Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.420 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.420 GermlineCausalMutation ORPHANET The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 17558409

2007

Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.410 GermlineCausalMutation ORPHANET A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 21462283

2011

Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.410 GermlineCausalMutation 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: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.400 GermlineCausalMutation ORPHANET

Entrez Id: 55165
Gene Symbol: CEP55
CEP55
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation 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
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation ORPHANET Identification of a novel MKS locus defined by TMEM107 mutation. 26123494

2015

Entrez Id: 80776
Gene Symbol: B9D2
B9D2
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation ORPHANET Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481

2011

Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation 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
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GermlineCausalMutation ORPHANET Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010

Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GeneticVariation ORPHANET Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 20671153

2010

Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.300 GeneticVariation ORPHANET