rs1555727493, KMT2B

N. diseases: 46
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aminoaciduria
CUI: C0238621
Disease: Aminoaciduria
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Generalized dystonia
CUI: C1848954
Disease: Generalized dystonia
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Iron accumulation in substantia nigra
CUI: C4022785
Disease: Iron accumulation in substantia nigra
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Laryngismus stridulus
CUI: C4551676
Disease: Laryngismus stridulus
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Mildly elevated creatine phosphokinase
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Organic aciduria
CUI: C0241775
Disease: Organic aciduria
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Progressive choreoathetosis
CUI: C1860216
Disease: Progressive choreoathetosis
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Retrocollis
CUI: C3887667
Disease: Retrocollis
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Anarthria speech disorder
CUI: C0234517
Disease: Anarthria speech disorder
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Dysgraphia
CUI: C0234144
Disease: Dysgraphia
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Elevated C-reactive protein level
CUI: C4023452
Disease: Elevated C-reactive protein level
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
High nonceruloplasmin-bound serum copper
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Iron accumulation in globus pallidus
CUI: C4022786
Disease: Iron accumulation in globus pallidus
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Mydriasis
CUI: C0026961
Disease: Mydriasis
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Opisthotonus
CUI: C0151818
Disease: Opisthotonus
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Retinal lattice degeneration
CUI: C0154856
Disease: Retinal lattice degeneration
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Clumsiness
CUI: C0233844
Disease: Clumsiness
3 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Nasal, dysarthic speech
CUI: C1834664
Disease: Nasal, dysarthic speech
3 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Recurrent sinusitis
CUI: C0581354
Disease: Recurrent sinusitis
3 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Aspiration Pneumonia
CUI: C0032290
Disease: Aspiration Pneumonia
4 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Flexion contracture of finger
CUI: C1857304
Disease: Flexion contracture of finger
4 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Hypometric saccades
CUI: C0423082
Disease: Hypometric saccades
4 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Toe-walking gait
CUI: C0427144
Disease: Toe-walking gait
4 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Sinus Tachycardia
CUI: C0039239
Disease: Sinus Tachycardia
5 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0