rs137853107
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs137853107
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
G |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs267607114
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
C |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs762543032
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs762543032
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs772437766
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs772437766
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
G |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs137853107
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
rs267607114
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
rs762543032
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
rs772437766
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
rs137853107
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
rs267607114
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
rs762543032
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
rs772437766
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
rs137853107
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
rs267607114
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
rs267607119
|
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |