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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 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
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 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
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 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
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 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
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 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
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 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
Long face
CUI: C1836047
Disease: Long face
12 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
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
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
Temperature instability
CUI: C1820737
Disease: Temperature instability
8 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
Sinus Tachycardia
CUI: C0039239
Disease: Sinus Tachycardia
5 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