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
Anarthria speech disorder
CUI: C0234517
Disease: Anarthria speech disorder
2 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
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 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
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 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
DYSTONIA 28, CHILDHOOD-ONSET
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
17 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
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 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
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 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
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
Hypometric saccades
CUI: C0423082
Disease: Hypometric saccades
4 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Increased bilirubin level (finding)
CUI: C0311468
Disease: Increased bilirubin level (finding)
8 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
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
Long face
CUI: C1836047
Disease: Long face
12 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0