Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | De novo genic mutations among a Chinese autism spectrum disorder cohort. | 27824329 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | De novo genic mutations among a Chinese autism spectrum disorder cohort. | 27824329 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo genic mutations among a Chinese autism spectrum disorder cohort. | 27824329 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. | 25969726 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. | 25969726 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. | 25969726 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Kelch proteins: emerging roles in skeletal muscle development and diseases. | 24959344 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Synaptic, transcriptional and chromatin genes disrupted in autism. | 25363760 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Kelch proteins: emerging roles in skeletal muscle development and diseases. | 24959344 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). | 24266877 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Synaptic, transcriptional and chromatin genes disrupted in autism. | 25363760 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Synaptic, transcriptional and chromatin genes disrupted in autism. | 25363760 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kelch proteins: emerging roles in skeletal muscle development and diseases. | 24959344 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). | 24266877 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). | 24266877 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Update on the Kelch-like (KLHL) gene family. | 23676014 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | De novo mutations in histone-modifying genes in congenital heart disease. | 23665959 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | De novo mutations in histone-modifying genes in congenital heart disease. | 23665959 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo mutations in histone-modifying genes in congenital heart disease. | 23665959 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Update on the Kelch-like (KLHL) gene family. | 23676014 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Update on the Kelch-like (KLHL) gene family. | 23676014 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Rate of de novo mutations and the importance of father's age to disease risk. | 22914163 | 2012 |