Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
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
|
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
|
Meckel-Gruber syndrome
|
0.630 |
GermlineCausalMutation |
ORPHANET |
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
|
17389183 |
2007 |
Entrez Id: |
80184 |
Gene Symbol: |
CEP290 |
CEP290
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Meckel-Gruber syndrome
|
0.430 |
GermlineCausalMutation |
ORPHANET |
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
|
17389183 |
2007 |
Entrez Id: |
79583 |
Gene Symbol: |
TMEM231 |
TMEM231
|
Meckel-Gruber syndrome
|
0.420 |
GermlineCausalMutation |
ORPHANET |
Mutations in TMEM231 cause Meckel-Gruber syndrome.
|
23349226 |
2013 |
RPGRIP1L
|
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 |
RPGRIP1L
|
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
|
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
|
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
|
Meckel-Gruber syndrome
|
0.400 |
GermlineCausalMutation |
ORPHANET |
|
|
|
Entrez Id: |
55165 |
Gene Symbol: |
CEP55 |
CEP55
|
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
|
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
|
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
|
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
|
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
|
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
|
Meckel-Gruber syndrome
|
0.300 |
GeneticVariation |
ORPHANET |
|
|
|