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.
Abnormal ocular motility
CUI: C0497202
Disease: Abnormal ocular motility
6 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Abnormal posture
CUI: C0231471
Disease: Abnormal posture
7 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Abnormality of temperature regulation
CUI: C1832160
Disease: Abnormality of temperature regulation
3 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Bruxism
CUI: C0006325
Disease: Bruxism
9 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Confusion
CUI: C0009676
Disease: Confusion
5 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
8 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Coughing
CUI: C0010200
Disease: Coughing
16 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Dermatitis, Atopic
CUI: C0011615
Disease: Dermatitis, Atopic
232 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Drowsiness
CUI: C0013144
Disease: Drowsiness
3 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Dystonia, Limb
CUI: C0751093
Disease: Dystonia, Limb
9 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Facial grimacing
CUI: C0234853
Disease: Facial grimacing
2 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Frequent falls
CUI: C0850703
Disease: Frequent falls
4 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0