| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | 29469822 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | 28017372 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. | 27799064 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. | 20052547 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. | 24769197 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. | 10944848 | 2000 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. | 8968752 | 1996 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. | 28942966 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |