| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | disease | CLINVAR | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. | 28792876 | 2017 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. | 27657687 | 2017 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. | 27657687 | 2017 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. | 26942288 | 2016 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. | 26942288 | 2016 | ||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | GeneticVariation | disease | CLINVAR | |||||||
|
0.100 | CausalMutation | disease | CLINVAR | |||||||
|
0.100 | CausalMutation | disease | CLINVAR | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.010 | Biomarker | disease | BEFREE | Implication of ASB12 in the patient's other unique features such as laryngotracheomalacia and pyloric stenosis is also unlikely. | 23401208 | 2013 |