rs587783685, KMT2D

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922 2017
Muscle hypotonia
CUI: C0026827
Disease: 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
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889 2017
Dysmorphic features
CUI: C0432072
Disease: 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
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057 2017
Dysmorphic features
CUI: C0432072
Disease: 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
CUI: C0000772
Disease: 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
CUI: C0026650
Disease: 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
CUI: C0000772
Disease: 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
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401 2017
Kabuki make-up syndrome
CUI: C0796004
Disease: 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
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922 2017