| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Joubert syndrome. | 21448235 | 2011 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | 19574260 | 2010 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | 19574260 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Joubert syndrome. | 21448235 | 2011 |
||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | 19574260 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. | 28860541 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. | 19058225 | 2009 |
||||
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Joubert syndrome. | 21448235 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | 19574260 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. | 28860541 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. | 19058225 | 2009 |
||||
|
C | 0.800 | CausalMutation | CLINVAR |