Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of brain morphology
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Abnormality of brain morphology
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Abnormality of the skull
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Triphalangeal thumb
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Nail abnormality
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Poor school performance
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Digitorenocerebral Syndrome
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Sensorineural hearing loss, bilateral
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Sensorineural hearing loss, bilateral
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Seizures
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Triphalangeal thumb
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Abnormality of digit
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Seizures
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Digitorenocerebral Syndrome
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Abnormality of digit
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 | |||||
Nail abnormality
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Abnormality of the skull
|
0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 | |||||
Poor school performance
|
0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |