rs1562927768, KMT2E

N. diseases: 15
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.
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Mental impairment
CUI: C0683322
Disease: Mental impairment
14 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Metopic ridge
CUI: C1851734
Disease: Metopic ridge
1 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
11 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Skin-picking
CUI: C1696701
Disease: Skin-picking
2 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
Soiling
CUI: C0349450
Disease: Soiling
1 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0