Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. | 28256057 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Congenital heart defects in molecularly proven Kabuki syndrome patients. | 28884922 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. | 27991736 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. | 28256057 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Pilomatricoma Associated with Kabuki Syndrome. | 27778401 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. | 28884889 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. | 28295206 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Pilomatricoma Associated with Kabuki Syndrome. | 27778401 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. | 28884889 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. | 27991736 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. | 28256057 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. | 28295206 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. | 28295206 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. | 27991736 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. | 27991736 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. | 28884889 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Congenital heart defects in molecularly proven Kabuki syndrome patients. | 28884922 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Pilomatricoma Associated with Kabuki Syndrome. | 27778401 | 2017 | |||||
Kabuki make-up syndrome
|
0.700 | CausalMutation | CLINVAR | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. | 28295206 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Pilomatricoma Associated with Kabuki Syndrome. | 27778401 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Congenital heart defects in molecularly proven Kabuki syndrome patients. | 28884922 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. | 28884889 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. | 28256057 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. | 28295206 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Congenital heart defects in molecularly proven Kabuki syndrome patients. | 28884922 | 2017 |